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Background: Micronutrient deficiencies associated with malnutrition in patients with inflammatory bowel disease (IBD) can lead to complications including anemia, coagulopathy, poor wound healing, and colorectal cancer. This study aimed to investigate micronutrient deficiencies (copper, vitamins A, B 9 , E, and K) in IBD patients and highlight associated symptoms to aid in the recognition of micronutrient deficiencies., Methods: A retrospective electronic chart review was performed on adults diagnosed with Crohn's disease or ulcerative colitis hospitalized at a tertiary care center for IBD flare between January 2013 and June 2017. Patients with serum or whole blood micronutrient levels were included. Pregnant and incarcerated patients were excluded., Results: A total of 611 IBD patients (440 Crohn's disease, 171 ulcerative colitis) met the inclusion criteria. Micronutrients were assessed in a subset of IBD patients (copper: 12.3%, A: 10.1%, B 9  : 95.9%, E: 10.3%, and K: 4.6%). Overall, 10.1% of patients had micronutrient deficiencies. The proportion of patients with copper, A, B 9 , E, and K deficiencies were 25.4, 53.3, 1.9, 23.7, and 29.4% for Crohn's disease and 50, 52.9, 1.2, 43.8, and 18.2% for ulcerative colitis, respectively. The most common symptoms or historical features associated with micronutrient deficiency were anemia (copper, B 9 ), muscle weakness (copper, E) thrombocytopenia, fatigue (copper, B 9 ), diarrhea (B 9 ), dry skin, hyperkeratosis, pruritus, significant weight loss, elevated C-reactive protein (A), bleeding, and osteoporosis (K)., Conclusion: Micronutrient deficiencies are common in IBD patients, yet they are not routinely assessed. Copper, vitamins A, E, and K deficiencies are particularly underrecognized. Associated historical features should raise suspicion and prompt assessment and treatment., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive cerebellar ataxia disorder that is caused by a mutation in the alpha-tocopherol transfer protein gene TTPA, leading to a lower level of serum vitamin E. Although it is almost clinically similar to Friedreich's ataxia, its devastating neurological features can be prevented with appropriate treatment. In this study, we present a patient who was initially diagnosed with Friedreich's ataxia, but was later found to have AVED. Frataxin gene screening revealed the absence of GAA expansion in homozygous or heterozygous state. However, TTPAgene sequencing showed the presence of the c.744delA mutation, leading to a premature stop codon (p.E249fx). In addition, the result of mutational analysis of MT-DNA genes revealed the presence of several variants, including the m.10044A>G mutation in MT-TG gene. Here, we report for the first time the coexistence of both mitochondrial and nuclear genes mutations in AVED., (© 2020. Belgian Neurological Society.)

Competing Interests: Declaration of interests We declare no competing interests.

A 57-year-old man, known with severe malnutrition, vitamin E deficiency and peripheral neuropathies, presented with vomiting and abdominal tenderness. There was a suspicion of ileus and small bowel obstruction. During the exploratory laparotomy a complete brown colored bowel without peristalsis was seen.

Background: College students may have a risk of fat-soluble vitamin deficiencies due to unhealthy dietary habits, especially for vitamin A and E. They are important members of the human antioxidant network; deficiencies of these vitamins may increase the risk of many critical diseases., Objective: The current study was undertaken to determine the status of vitamin A and E in college students., Methods: Healthy college students were recruited, and fasting blood samples of them were collected and used for determining serum levels of retinol and α-tocopherol by the HPLC method., Results: We found that there was no vitamin A deficiency in college students. However, vitamin E deficiency existed in 34.5% of college students, especially in males. All the students had no vitamin E adequacy. In addition, our findings showed that BMI was inversely associated with serum α-- tocopherol, but not serum retinol., Conclusion: These results suggest that vitamin E deficiency in college students should be given more attention, and it is necessary to consider using vitamin E supplements., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Here we report two siblings with ataxia and peripheral neuropathy. One patient showed head tremors. Genetic analysis revealed a mutation in the hepatic α-tocopherol transfer protein (α-TTP) gene (TTPA) on chromosome 8q13. They were diagnosed with ataxia with vitamin E deficiency which is firstly reported in the Philippines. As the symptoms of ataxia with vitamin E deficiency can be alleviated with lifelong vitamin E administration, differential diagnosis from similar syndromes is important. In addition, ataxia with vitamin E deficiency causes movement disorders. Therefore, a common hereditary disease in the Philippines, X-linked dystonia-parkinsonism, could be another differential diagnosis. The Philippines is an archipelago comprising 7,107 islands, and the prevalence of rare hereditary diseases among the populations of small islands is still unclear. For neurologists, establishing a system of genetic diagnosis and counseling in rural areas remains challenging. These unresolved problems should be addressed in the near future. J. Med. Invest. 68 : 400-403, August, 2021.

Background: Vitamin A deficiency (VAD) has been hypothesized to play a role in the pathophysiology of atopic dermatitis (AD)., Objective: We sought to verify whether VAD can exacerbate AD development, and explore the possible pathophysiologic mechanism., Methods: We detected serum vitamin A (VA) concentration in different phenotypes of AD infants (intrinsic AD, iAD and extrinsic AD, eAD), and established ovalbumin (OVA) percutaneous sensitized AD model and passive cutaneous anaphylaxis (PCA) model on VAD and vitamin A supplementation (VAS) model in wild-type mice (C57BL/6) and established AD model on both normal VA (VAN) and VAD feeding mast cell deficiency mice (ckit w-sh/w-sh )., Results: The average serum VA concentration of eAD was significantly lower than that of iAD, as well as healthy controls. In OVA-induced C57BL/6 mouse AD model, compared with VAN group, VAD mice manifested significantly more mast cells accumulation in the skin lesions, more severe Th2-mediated inflammation, including higher serum IgG1 and IgE levels, more IL-4, IL-13 mRNA expression in OVA-sensitized skin, and lower Th1 immune response, including lower serum IgG2a and IFN-γ mRNA expression in the skin. But there was no significant difference in the expression of IL-17 mRNA between OVA-treated skin of VAN and VAD mice. However, in OVA-induced ckit w-sh/w-sh mouse AD model, we did not find any significant differences in the above measurements between VAD and VAN group. In PCA model, VAD mice showed remarkable more blue dye leakage than that in VAN mice. Compared with VAD group, the above-mentioned inflammatory measurements in VAS group and VAN group were similar in OVA-induced AD model mice., Conclusions and Clinical Relevance: VAD can exacerbate extrinsic AD by augmenting Th2-mediated inflammation and mast cell activation. Therapeutic VAS can rescue VAD-aggravated eAD. It may provide a new strategy for future prevention or treatment of atopic dermatitis., (© 2020 John Wiley & Sons Ltd.)

There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with onset during childhood. Movement disorders are among the most common neurological problems in inborn errors of metabolism, but, in many cases, remain poorly defined. Although movement disorders are usually not the only and often not the presenting symptom, their recognition can facilitate a diagnosis. Movement disorders contribute substantially to the morbidity in inborn errors of metabolism and can have a significant impact on quality of life. Common metabolic movement disorders include the monoamine neurotransmitter disorders, disorders of amino and organic acid metabolism, metal storage disorders, lysosomal storage disorders, congenital disorders of autophagy, disorders of creatine metabolism, vitamin-responsive disorders, and disorders of energy metabolism. Importantly, disease-modifying therapies exist for a number of inborn errors of metabolism, and early recognition and treatment can prevent irreversible CNS damage and reduce morbidity and mortality. A phenomenology-based approach, based on the predominant movement disorder, can facilitate a differential diagnosis and can guide biochemical, molecular, and imaging testing. The complexity of metabolic movement disorders demands an interdisciplinary approach and close collaboration of pediatric neurologists, neurologists, geneticists, and experts in metabolism. In this review, we develop a general framework for a phenomenology-based approach to movement disorders in inborn errors of metabolism and discuss an approach to identifying the "top ten" of treatable inborn errors of metabolism that present with movement disorders-diagnoses that should never be missed. © 2018 International Parkinson and Movement Disorder Society., (© 2018 International Parkinson and Movement Disorder Society.)

Objectives: The purpose of this study was to examine the impact of exocrine pancreatic insufficiency (EPI) on chronic pancreatitis (CP) patients and to identify challenges with its diagnosis and treatment., Methods: Ninety-one patients with CP diagnosed with endoscopic ultrasound were identified and assessed for symptoms of EPI, fat-soluble vitamin levels, dual-energy x-ray absorptiometry scan T-scores, and treatment with pancreatic enzyme replacement therapy. All patients were also screened with the Malnutrition Universal Screening Test., Results: Exocrine pancreatic insufficiency was diagnosed in 84.6% (77/91) of patients based on symptoms of bloating, steatorrhea, or weight loss. Of these patients, 35.2% (19/54) had vitamin A deficiency, 62.5% (55/88) had vitamin D deficiency, and 17.7% (9/51) had vitamin E deficiency. Either osteopenia or osteoporosis was found in 68.9% (31/45). A medium or higher risk for malnutrition based on Malnutrition Universal Screening Test score of 1 or higher was found in 31.5% (28/89). Malnutrition Universal Screening Test score of 1 or higher was associated with an increased risk for osteopenia and osteoporosis on Fisher's exact test (P = 0.0037)., Conclusions: There is a high prevalence of fat-soluble vitamin deficiencies, osteopathy, and malnutrition in CP patients, which is underestimated due to a lack of effective diagnosis and suboptimal therapies for EPI.

Patients with primary biliary cholangitis (PBC) are at risk for various harmful consequences of chronic cholestasis. These include fat-soluble vitamin deficiency, even in the setting of macronutrient sufficiency, as well as metabolic bone disease, including osteoporosis with fractures. Hyperlipidemia is often present and less commonly associated with risk of cardiovascular event; however, the long-term effect of new emerging therapies for PBC remains to be determined. Patients with PBC also have infrequent but notable risk of portal hypertension despite early-stage disease. This review discusses the background, evaluation, and practical management of these complications of chronic cholestasis., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Objective: A pigment retinopathy has been reported in adult horses with equine motor neuron disease (EMND) arising from chronic α-tocopherol (α-TP) deficiency. A pigment retinopathy has not been identified in horses with neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) that affects genetically susceptible young horses with α-TP deficiency. The objective of this report is to describe, for the first time, a pigment retinopathy in a family of α-TP-deficient Warmbloods (WB) with clinically apparent NAD/EDM or EMND., Animals and Procedures: Twenty-five WB horses from one farm underwent complete neurologic and ophthalmic examinations and serum α-TP concentrations were assessed. Two of the most severely ataxic horses were euthanized and postmortem examinations performed., Results: Alpha-TP deficiency was widespread on this farm (22 of 25 horses). Eleven of 25 horses were clinically normal (age range 2-12 years), one had signs of EMND (6 years of age), 10 had signs of ataxia consistent with NAD/EDM (1-10 years), and two of these were postmortem confirmed concurrent NAD/EDM and EMND. A pigment retinopathy characterized by varying amounts of granular dark pigment in the tapetal retina was observed in four clinically apparent NAD/EDM horses (two postmortem confirmed concurrent NAD/EDM and EMND) and one horse with clinical signs of EMND., Conclusions: A pigment retinopathy can be present in young α-TP-deficient Warmblood horses with clinical signs of EMND as well as those with signs of NAD/EDM., (© 2016 American College of Veterinary Ophthalmologists.)

Vitamin E is important because of its antioxidant activity in situations of oxidative stress, especially postnatally. Hence, the objective was to verify whether maternal alpha-tocopherol level is associated with the alpha-tocopherol levels of the newborn and colostrum. This is a cross-sectional study of 58 women and their term newborns from a public hospital. Blood and colostrum were collected to measure alpha-tocopherol levels by high-performance liquid chromatography. Mothers with serum alpha-tocopherol levels <16.2 mmol L(-1) and newborns <11.6 mmol L(-1) were indicative of deficiency or low levels. Mothers were divided into two groups: <16.2 mmol L(-1) and those with levels ≥16.2 mmol L(-1) . The mean (95% confidence interval) serum alpha-tocopherol levels of mothers, umbilical cords and colostrum were 28 (24-32), 6 (5-8) and 39 mmol L(-1) (32-45), respectively (P < 0.001); 19% of the women and 90% of the newborns had low alpha-tocopherol levels. Maternal alpha-tocopherol level was associated with that of the umbilical cord. Newborns from mothers at risk of deficiency had low alpha-tocopherol levels (P < 0.001). Colostrum levels of vitamin E were not influenced by maternal serum. Maternal deficiency influenced the vitamin E level of the umbilical cord but does not in the colostrum, evidencing distinct transfer mechanisms via the mammary gland., (© 2016 John Wiley & Sons Ltd.)

Objective: In Shwachman-Diamond syndrome (SDS), pancreatic insufficiency can lead to malabsorption of fat-soluble vitamins and trace elements. The aim of this study was to assess the serum concentrations of vitamins A and E, zinc, copper, and selenium and their deficiencies., Methods: This retrospective review was performed in 21 children (12 were male; median age, 7.8 years) with genetically confirmed SDS at a tertiary pediatric hospital. Pancreatic enzyme replacement therapy (PERT) and vitamin or trace elements supplements were documented., Results: Twenty patients (95%) had pancreatic insufficiency receiving PERT, 10 (47%) had a combined vitamin and trace element deficiency, 6 (29%) had an isolated vitamin deficiency, and 4 (19%) had an isolated trace element deficiency. Vitamins A and E deficiency occurred in 16 (76%) and 4 (19%) of 21, respectively. Low serum selenium was found in 10 (47%), zinc deficiency in 7 (33%), and copper deficiency in 5 (24%). Eleven patients (52%) were on multivitamin supplementation, and 2 (10%) on zinc and selenium supplements. No statistical differences were found between repeated measurements for all micronutrients., Conclusions: More than 50% of the children had vitamin A and selenium deficiencies despite adequate supplementation of PERT and supplements. Micronutrients should be routinely measured in SDS patients to prevent significant complications.

We report a case of inadequate diet (caused by extreme self-neglect and alcohol excess) which led to chronic severe deficiencies of vitamins A, D and E. At presentation the patient had widespread follicular hyperkeratosis of the skin, keratomalacia of both eyes and a severe cognitive impairment. He responded well to treatment including high dose parenteral vitamins, but lasting impairments in his vision and cognition have caused permanent disability., (2014 BMJ Publishing Group Ltd.)

Background: The purpose of this study was to identify the frequency of fat-soluble vitamin deficiencies in children with celiac disease (CD) and to determine the value of routine testing for these deficiencies., Methods: We conducted a retrospective medical record review of patients with a confirmed diagnosis of CD and fat-soluble vitamin levels measured at diagnosis between 1995 and 2012 at Mayo Clinic. Patients' demographics, fat-soluble vitamin levels, and pertinent clinical factors at the time of diagnosis were collected., Results: Eighty-three patients were included in the final analysis: 51 girls and 32 boys, with an average age at diagnosis of 12.8 years in girls and 13.0 years in boys. The most commonly reported symptoms were abdominal pain in 49 patients and diarrhea in 30 patients. Family history of CD was reported in 32 patients. Average vitamin levels for vitamin E, 25-hydroxyvitamin D (25 (OH) D), and vitamin A were 7.5 mg/L, 32.8 ng/mL, and 334.5 μg/dL, respectively. No patients had vitamin A deficiency, 2 patients had vitamin E deficiency, and 9 patients had mild-to-moderate vitamin D deficiency (none had severe deficiency). Both patients with vitamin E deficiency were symptomatic and had complete villous atrophy. Thirty-one patients had insufficiency of 25 (OH) D, which was less than the reported frequency of vitamin D insufficiency in the general pediatric population in the United States in 2004. None of the patients were receiving vitamin supplements at the time of diagnosis., Conclusions: Fat-soluble vitamin deficiencies are uncommon in children with new diagnosis of CD. Routine measuring of fat-soluble vitamins levels may not be necessary.

Objective: To evaluate the differences in frequency of fat-soluble vitamin deficiencies if we adjust their levels by its main carriers in plasma in patients undergoing Biliopancreatic diversion (BPD) and Roux-en-Y gastric bypass (RYGB)., Research Methods & Procedures: We recruited 178 patients who underwent RYGB (n = 116 patients) and BPD (n = 62 patients) in a single centre. Basal data information and one-year after surgery included: anthropometric measurements, fat-soluble vitamins A, E and D, retinol binding protein (RBP) and total cholesterol as carriers of vitamin A and E respectively. Continuous data were compared using T-Student and proportions using chisquare test., Results: There was a vitamin D deficiency of 96% of all patients, 10% vitamin A deficiency and 1.2% vitamin E deficiency prior to surgery. One year after surgery, 33% of patients were vitamin A deficient but the frequency reduced to 19% when we adjusted by RBP. We found a vitamin E deficiency frequency of 0% in RYGB and 4.8% in DBP one year after surgery. However, when we adjusted the serum levels to total cholesterol, we found an increased frequency of 8.7% in RYGB group for vitamin E deficiency and 21.4% in DBP (p = 0.04)., Conclusion: We have found a different frequency of deficit for fat-soluble vitamin both in BPD and RYGB once we have adjusted for its main carriers. This is clinically relevant to prevent from overexposure and toxicity. We suggest that carrier molecules should be routinely requested when we assess fat-soluble vitamin status in patients who undergo malabsorptive procedures., (Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.)

Background: Nitrogen-bisphosphonates (N-BPs) are the most widely used drugs for bone fragility disorders. Long-term or high-dose N-BP use is associated with unusual serious side effects such as osteonecrosis of the jaw, musculoskeletal pain, and atypical fractures of long bones. It has escaped notice that the pathway N-BPs block is central for the endogenous synthesis of coenzyme Q10, an integral enzyme of the mitochondrial respiratory chain and an important lipid-soluble antioxidant. Our objective was to assess the coenzyme Q10 and antioxidant status in relation to N-BP exposure in women with postmenopausal osteoporosis., Methods: Seventy-one postmenopausal women (age, 73.5 ± 5.5 y) with osteoporosis and no other malignancy were included in this cross-sectional study. Seventeen were treatment naive, 27 were on oral N-BP, and 27 were on i.v. N-BP., Results: Vitamin E γ-tocopherol levels (μmol/mL) were significantly reduced in N-BP users [oral, H(2) = 18.5, P = .02; i.v., H(2) = 25.2, P < .001; mean rank comparisons after Kruskal-Wallis test). Length of time (days) of N-BP exposure, but not age, was inversely associated with the coenzyme Q10/cholesterol ratio (μmol/mol) (β = -0.27; P = .025), which was particularly low for those on i.v. N-BP (mean difference = -35.0 ± 16.9; 95% confidence interval, -65.2 to -4.9; P = .02)., Conclusion: The degree of N-BP exposure appears related to compromised coenzyme Q10 status and vitamin E γ-tocopherol levels in postmenopausal women with osteoporosis. This phenomenon may link to certain adverse N-BP-associated effects. Confirmation of this would suggest that therapeutic supplementation could prevent or reverse certain complications of long-term N-BP therapy for at-risk individuals.

Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed with ataxia with vitamin E deficiency have been reported worldwide. The majority of cases originated in the Mediterranean region, and the 744delA was the most common mutation among the 22 mutants previously described. We examined the clinical and molecular features of a large cohort of 132 Tunisian patients affected with ataxia with vitamin E deficiency. Of these patients, nerve conduction studies were performed on 45, and nerve biopsy was performed on 13. Serum vitamin E was dramatically reduced for 105 of the patients analysed. Molecular analysis revealed that 91.7% of the patients (n = 121) were homozygous for the 744delA mutation. Three other mutations were detected among the remaining patients (8.3%, n = 11) in the homozygous state. Two were previously reported (400C>T and 205-1G>T), and one was novel (553+1T>A). Age of onset was 13.2 ± 5.9 years, with extremes of 2 and 37 years. All described patients exhibited persistent progressive cerebellar ataxia with generally absent tendon reflexes. Deep sensory disturbances, pyramidal syndrome and skeletal deformities were frequent. Head tremor was present in 40% of the patients. Absence of neuropathy or mild peripheral neuropathy was noted in more than half of the cohort. This is the largest study of the genetic, clinical and peripheral neuropathic characteristics in patients with ataxia and vitamin E deficiency. The 744delA mutation represents the most common pathological mutation in Tunisia and worldwide, likely because of a Mediterranean founder effect. Our study led us to suggest that any patient displaying an autosomal recessive cerebellar ataxia phenotype with absent tendon reflexes and minor nerve abnormalities should first be screened for the 744delA mutation, even in the absence of a serum vitamin E measurement.

Background/aims: Longtime chronic malabsorption may among other things cause a lack of liposoluble vitamins. Vitamin E deficiency can lead to formation of lipofuscin aggregates. Its deficiency is also associated with an increased lipofuscinosis of the bowel, i.e. brown bowel syndrome., Methods: Systematic research via Medline on brown bowel syndrome, lipofuscinosis, and vitamin E deficiency was performed. We combined our own clinical experience and a review of the literature for this paper. Its goal is to inform about the possible consequences of severe malabsorption and brown bowel syndrome., Results: Systematic data about the occurrence of severe malabsorption and brown bowel syndrome are rare. Only about 27 scientific reports can be found on this subject. Brown bowel syndrome is found mostly in conjunction with vitamin E deficiency and lipofuscinosis of the bowel. The clinical findings are caused by both malabsorption and lipofuscinosis. Case reports show a therapeutic effect of vitamin E., Conclusion: Vitamin deficiency caused by longtime chronic malabsorption can lead to the development of brown bowel syndrome, which is seen as the expression of lipofuscinosis of the bowel, and can cause further clinical disorders. Patients with malabsorption should therefore be monitored regarding their vitamin E levels.

Objective: Our aim was to examine the impact of a single enteral dose of vitamin E on serum tocopherol levels. The study was undertaken to see whether a single dose of vitamin E soon after birth can rapidly increase the low α-tocopherol levels seen in very preterm infants. If so, this intervention could be tested as a means of reducing the risk of intracranial hemorrhage., Methods: Ninety-three infants <27 weeks' gestation and <1000 g were randomly assigned to receive a single dose of vitamin E or placebo by gastric tube within 4 hours of birth. The vitamin E group received 50 IU/kg of vitamin E as dl-α-tocopheryl acetate (Aquasol E). The placebo group received sterile water. Blood samples were taken for measurement of serum tocopherol levels by high-performance liquid chromatography before dosing and 24 hours and 7 days after dosing., Results: Eighty-eight infants received the study drug and were included in the analyses. The α-tocopherol levels were similar between the groups at baseline but higher in the vitamin E group at 24 hours (median 0.63 mg/dL vs. 0.42 mg/dL, P = .003) and 7 days (2.21 mg/dL vs 1.86 mg/dL, P = .04). There were no differences between groups in γ-tocopherol levels. At 24 hours, 30% of vitamin E infants and 62% of placebo infants had α-tocopherol levels <0.5 mg/dL., Conclusions: A 50-IU/kg dose of vitamin E raised serum α-tocopherol levels, but to consistently achieve α-tocopherol levels >0.5 mg/dL, a higher dose or several doses of vitamin E may be needed.

The catalytic properties of many enzymes depend on the participation of vitamins as obligatory cofactors. Vitamin B12 (cobalamin) and folic acid (folate) deficiencies in infants and children classically present with megaloblastic anemia and are often accompanied by neurological signs. A number of rare inborn errors of cobalamin and folate absorption, transport, cellular uptake, and intracellular metabolism have been delineated and identification of disease-causing mutations has improved our ability to diagnose and treat many of these conditions. Two inherited defects in biotin metabolism are known, holocarboxylase synthetase and biotinidase deficiency. Both lead to multiple carboxylase deficiency manifesting with metabolic acidosis, neurological abnormalities, and skin rash. Thiamine-responsive megaloblastic anemia is characterized by megaloblastic anemia, non-type I diabetes, and sensorineural deafness that responds to pharmacological doses of thiamine (vitamin B1). Individuals affected with inherited vitamin E deficiencies including ataxia with isolated vitamin E deficiency and abetalipoproteinemia present with a spinocerebellar syndrome similar to patients with Friedreich's ataxia. If started early, treatment of these defects by oral or parenteral administration of the relevant vitamin often results in correction of the metabolic defect and reversal of the signs of disease, stressing the importance of early and correct diagnosis in these treatable conditions., (Copyright © 2013 Elsevier B.V. All rights reserved.)

Background: Other than the in vitro erythrocyte hemolysis test, no valid biomarkers of vitamin E status currently exist., Objective: We hypothesized that the urinary vitamin E metabolite α-carboxyethyl hydroxychroman (α-CEHC) could serve as a biomarker., Design: The relations between urinary α-CEHC, plasma α-tocopherol, and vitamin E intakes were assessed by using a previously validated multipass, Web-based, 24-h self-administered dietary recall, and we concurrently collected plasma and 24-h urine samples from 233 participants of both sexes., Results: Median vitamin E intakes were 9.7 mg α-tocopherol/d. Intakes were correlated with plasma α-tocopherol (R = 0.40, P < 0.001) and urinary α-CEHC (R = 0.42, P < 0.001); these correlations were essentially unchanged after multivariate adjustments. On the basis of multiple regression analysis, urinary α-CEHC excretion increased by ~0.086 μmol/g creatinine (95% CI: 0.047, 0.125) for every 1-mg (2.3-μmol) increase in dietary α-tocopherol. Urinary α-CEHC excretion remained at a plateau (median: 1.39 μmol/g creatinine) until dietary intakes of α-tocopherol exceeded 9 mg α-tocopherol/d. The inflection point at which vitamin E metabolism increased was estimated to be at an intake of 12.8 mg α-tocopherol/d. Daily excretion of >1.39 μmol α-CEHC/g creatinine is associated with a greater than adequate α-tocopherol status, as evidenced by increased vitamin E metabolism and excretion., Conclusion: Thus, urinary α-CEHC is a valid biomarker of α-tocopherol status that can be used to set a value for the Estimated Adequate Requirement of vitamin E.

Objective: To describe epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses (QHs) on a single farm., Design: Prospective case series. Animals-148 horses., Procedures: Neurologic, pathological, and toxicological evaluations were completed in selected neurologically affected horses over a 2-year period. Descriptive statistical analysis was performed., Results: 87 QHs and 1 QH-crossbred horse were affected. Most (50/88 [56.8%]) affected horses were 1 to 2 years old (median age, 2 years [range, 2 months to 34 years]). Neurologic deficits included obtundation (53/88 [60%] horses), decreased to absent menace response (33/88 [37.5%]), proprioceptive positioning deficits, wide-based stance, ataxia, and dysmetria (88/88 [100%]). Most (78/88 [88.6%]) horses had mild ataxia, but some (10/88 [11.4%]) had moderate to severe ataxia. Low serum concentrations of vitamin E (≤ 2 mg/L) were detected in 3 index case horses and 16 of 17 randomly selected horses (13/14 affected and 3/3 unaffected) during study year 1. Dietary vitamin E supplementation did not improve neurologic deficits in affected horses; vitamin E administration in pregnant mares appeared to decrease but not prevent disease development among offspring born the following year. Lesions detected at necropsy included bilaterally symmetric neuroaxonal degeneration with axonal spheroids in the nucleus gracilis, nucleus cuneatus medialis, nucleus cuneatus lateralis, and nucleus thoracicus (5/5 horses)., Conclusions and Clinical Relevance: Neuroaxonal dystrophy should be considered in evaluation of young horses with ataxia and proprioceptive positioning deficits. Vitamin E deficiency may contribute to disease severity.

Objective: To determine vitamin A and vitamin E status in very low birth weight (VLBW) infants at the time of birth (TB), at the time of full feeding (TFF) and at term postmenstrual age (TT)., Study Design: An observational study was conducted in VLBW infants. Plasma retinol and α-tocopherol levels were measured at TB, TFF and TT. Multivitamin supplementation was given to all infants to meet the daily requirement., Result: A total of 35 infants were enrolled. The median (interquartile range) of gestational age and birth weight was 30 (28 to 32) weeks and 1157 g (982 to 1406 g). The median of vitamin A and vitamin E intakes from TFF to TT was 832 and 5.5 IU kg(-1) day(-1), respectively. Vitamin A deficiency occurred in 67.7% at birth, 51.6% at TFF and 82.1% at TT. Vitamin E deficiency occurred in 77.4% at birth, 16.1% at TFF and 35.7% at TT. Small-for-gestational age was the only risk factor for vitamin A deficiency. Lower amount of breast milk consumption was associated with higher incidence of vitamin E deficiency. No differences in vitamin A- or vitamin E-related morbidities between infants with and without vitamin deficiencies were found., Conclusion: High prevalence of vitamin A and vitamin E deficiency was found in VLBW infants starting from birth to term postmenstrual age. Therefore, a higher dose of vitamin supplementation is required.

Ataxia due to vitamin E deficiency is important because disease progression can be stopped by supplementary therapy. A limited number of studies and case series suggest that the disease is mainly confined to the cerebellum and spinal cord tract and seems to be more common in North African countries. We report a patient from North Norway with progressive ataxia from the age of 5, bilateral dropfoot, Babinski's sign, dysarthria and early epilepsy. Two mutations, 513insTT and p.Arg134x, were detected. When treatment was initiated 25 years after onset of symptoms, the patient was bound to the wheel chair. No further progression of pareses, ataxia or epileptic seizures has been observed in a 3-year follow-up period. This case indicates that cerebral involvement may be present in patients with a lack of vitamin E. If this observation is confirmed, a further exploration of clinical presentation, anatomic involvement and geographic distribution of the disease is warranted.

Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease, due to mutations in TTPA gene (Arita et al. in Biochem J 306(Pt. 2):437-443, 1995; Hentati et al. in Ann Neurol 39:295-300, 1996), which encodes for alpha-TTP, a cytosolic liver protein that is presumed to function in the intracellular transport of alpha-tocopherol. This disease is characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. The neurological symptoms include ataxia, dysarthria, hyporeflexia, and decreased vibration sense, sometimes associated with cardiomyopathy and retinitis pigmentosa (Mariotti et al. in Neurol Sci 25:130-137, 2004). Vitamin E supplementation improves symptoms and prevents disease progress (Doria-Lamba et al. in Eur J Pediatr 165(7):494-495, 2006). Over 20 mutations have been identified in patients with AVED. In the present paper we summarize the recent findings on molecular genetic of this disease including the list of the known mutations.

Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched first. Ataxia with isolated vitamin E deficiency and abetalipoproteinemia have a specific treatment. Associated neurological signs such polyneuroapthy, ophtalmologic or oculomotor signs, pyramidal signs, and cerebellar MRI can lead to the etiological diagnosis. Biological tests should be: vitamin E, cholesterol, alpha-fetoprotein levels, acanthocytes, than phytanic acid, cholestanol, lysosomal enzymes. Numerous autosomal recessive cerebellar ataxia remain without etiology.

Nutritional deficiencies have always been a major consideration in pediatrics. Although the classic forms of many of the well-documented nutritional deficiencies are memorized during training as a physician, nutritional deficiencies that can occur in otherwise asymptomatic normally growing children are often overlooked. The two most common deficiencies seen in children who are growing normally are iron and vitamin D deficiencies. These deficiencies are surprisingly common and can have a significant impact on the overall health of a child. This article reviews these nutritional deficiencies and other less commonly seen deficiencies in children who are otherwise growing normally.

Aims: This survey aimed to identify nutritional deficits affecting Bedouin children as they enter school age and illustrate their families' dietary consumption patterns., Methods: 560 healthy schoolchildren aged 5.5-10 years from 8 Badia hamlets were nutritionally investigated by applying anthropometric, laboratory and dietary assessment methods., Results: Mean and median serum retinol concentrations (SRCs) were 228 and 218 microg/l, respectively. Mean prevalence of nutritional deficits among children were stunting (23.4%), anemia (57.5%), vitamin A deficiency (29.5%), iron deficiency (28.4%), and vitamin E deficiency (17.1%). Including those with borderline values, the proportion of children vulnerable to VAD threats reached 90%. Compared to normal subjects, anemic children had lower SRC (207 vs. 233 microg/l; p < 0.001) and ferritin (9.6 vs. 11.3 microg/l; p < 0.001) levels; stunted children had lower serum vitamin E (6.5 vs. 7.3 mg/l; p < 0.001) and ferritin (10.3 vs. 11.1 microg/l; p < 0.001) levels; vitamin A-deficient children had lower hemoglobin (11.3 vs. 11.8 g/dl; p < 0.001), serum vitamin E (6.69 vs. 7.23 mg/l; p < 0.01), and serum ferritin (10.4 vs. 11.2 microg/l; p < 0.001) levels, and vitamin E-deficient subjects had lower SRC levels (206 vs. 232 microg/l; p < 0.001). Except for hemoglobin status, no significant differences between genders were detected. SRC correlated strongly with hemoglobin, vitamin E, BMI and serum ferritin. The frequency of consumption of meat and fats seemed to be among the determinants of SRC and hemoglobin values., Conclusion: Urbanization has brought Bedouins towards poverty and undernutrition, with older children suffering more severe consequences in comparison with preschool-age children. This multifaceted nutritional problem requires implementation of multicomponent interventions., (Copyright (c) 2009 S. Karger AG, Basel.)

We report an atypical neurophysiologic pattern of isolated vitamin E deficiency in a 13-year-old boy. Electroneurography- electromyography, somatosensory evoked potentials, serum vitamin E concentration and genetic analysis of the alpha-tocopherol transfer protein gene were performed. Nerve conduction study failed to show peripheral neuropathy whereas needle electromyography of distal muscles demonstrated chronic neurogenic motor unit potentials. Both clinical and neurophysiologic data fulfilled the criteria of distal hereditary motor neuropathy. Later on, somatosensory-evoked potential displayed absence of spinal and central response. The serum vitamin E level was low, and the patient was found to be homozygous for a 513insTT mutation in exon 3 of the alpha-tocopherol transfer protein gene. To our knowledge this is the first case of isolated deficiency of vitamin E that presents the classic neurophysiologic and clinical features of distal hereditary motor neuropathy.

Objective: Simultaneous assessment of the status of lipid-soluble vitamins; retinol, alpha-tocopherol, 25 hydroxyvitamin D(3) and 24,25 dihydroxyvitamin D(3) in serum of blood donors, paradigm of a healthy population., Patients and Methods: Serum samples were supplied by the Regional Blood Donors Center in Cordoba from 215 healthy Spanish individuals (166 males and 99 females). Target analytes were determined using liquid-liquid extraction and separation-detection by HPLC., Results: The method was validated using standard reference material (SRM 968c, NIST). Standard errors were 1.4%, 2.1% and 1.8% for 25OHD(3), vitamin A and vitamin E, respectively. The ranges thus assessed were as follows: 17.1+/-8.0 nmol/L, for 24,25(OH)(2)D(3), 40.3+/-34.6 nmol/L for 25OHD(3), 2.57+/-0.7 micromol/L for retinol and 22.13+/-8.30 micromol/L for alpha-tocopherol. Females showed lower serum levels of retinol (p<0.01), alpha-tocopherol (p<0.01) and 25OHD(3) (p=0.028). A total of 10.4% subjects showed vitamin E deficiency, 85.4% had normal levels and 4.2% had high levels of vitamin E. 65.6% of the target subjects showed normal levels of retinol, and 1.6% had moderate or severe vitamin A deficiency. High levels of vitamin A were found in 32.8% of the subjects. Fourteen percent of the healthy subjects showed severe vitamin D deficiency (serum levels of 25OHD(3) <25 nmol/L), 50.8% had vitamin D(3) insufficiency (25OHD(3) from 25 to 50 nmol/L), 17.6% of the subjects had suboptimal 25OHD(3) serum levels (25OHD(3) from 50 to 75 nmol/L), only 16.8% had an adequate status of 25OHD(3) and 0.8% had high levels of vitamin D (25OHD(3)>200 nmol/L). Among subjects with vitamin D below 50 nmol/L, 49.38% had high levels of retinol (over 2.4 mumol/L). This association is considered a risk factor for osteoporosis and fracture., Conclusions: The reported data of high prevalence of lipid-soluble vitamin values outside the physiological range have important repercussions on public health. These data also uphold the need for simultaneous measurement of fat-soluble vitamins as a valuable tool in clinical practice as well as in epidemiological studies for awareness and correction.

Objective: To examine the prevalence and risk factors of vitamin deficiencies among older Thai adults., Methods: The cross-sectional study was conducted in four rural communities, one from each of the four main regions of Thailand. In total, 2336 subjects aged 60 years and over were recruited. Anthropometric variables, demographic data, blood glucose and lipid profile, albumin, globulin and blood levels of vitamin A, beta-carotene, folic acid, vitamin B12, vitamin C, vitamin E and vitamin B1 were all measured., Results: The prevalence of vitamin deficiencies was 0.6% for vitamin B12, 6.1% for vitamin A, 9.9% for vitamin C, 30.1% for vitamin B1, 38.8% for erythrocyte folate, 55.5% for vitamin E and 83.0% for beta-carotene. Male gender was a common risk factor for at least three vitamin deficiencies, i.e. beta-carotene, folate and vitamin E. Being a manual worker was a common risk factor of beta-carotene and vitamin B1 deficiency. Poor income was found as a risk factor only in erythrocyte folate deficiency while increasing age was a significant factor only in vitamin C deficiency., Conclusion: The prevalence of vitamin deficiencies among older Thai people was quite different from that found in Western countries, reflecting different socio-economic backgrounds. Vitamin deficiency was not only from poor food intake but also from the dietary habit of monotonous food consumption in older people. Some common associated factors of atherosclerosis were also significantly related to folate and vitamin E deficiencies.

This study was designed to determine the status of selenium, dl-alpha-tocopherol, and all-trans-retinol in adults living in Al-Kharj district using serum and toenail samples, and to look for possible association between these parameters and the etiology of endemic diseases in the same area. For this purpose, we examined a cross section of samples of 743 healthy Saudi adults on routine visits to the Primary Health Care Unites (PHCUs) for different common health problems. The arithmetic mean for selenium, dl-alpha-tocopherol, and all-trans-retinol in serum and toenail selenium levels were 107.045 +/- 23.045 microg/l (n = 743, range 52.600-210.120 microg/l), 1.053 +/- 0.324 mg/dl (n = 737, range 0.29-3.42 mg/dl), 52.561 +/- 25.671 microg/dl (n = 743, range 11.20-400.85 microg/dl), and 0.634 +/- 0.221 microg/g (n = 691, range < DL - 1.797 microg/g), respectively. The average serum selenium concentration seems to be satisfactory and compares favourably with high selenium intake countries. Although none of our participants exhibited serum selenium deficiency (< 45 microg/l), 41% of our participants had toenail selenium < 0.56 microg/g reported low levels in the previous study. The mean serum dl-alpha-tocopherol concentrations fall within the upper limit of the normal range of > 0.698-1.981 mg/dl for alpha-tocopherol as found in previous studies. On the other hand, the mean serum all-trans-retinol is higher than the normal range (20-30 microg/dl). None had exhausted retinol stores trans-retinol and MDA levels in the serum was found as a sign of peroxidative lipid damage, confirming the role of vitamin A in reducing oxidative stress. Our data also revealed a link between the status of selenium, dl-alpha-tocopherol and all-trans-retinol and a number of health problems. However, these observations need larger epidemiological studies for further confirmation.

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia.

Alpha-, beta-, gamma- and delta-tocopherol are present in many foods and are, in the absence of fat malabsorption, well absorbed from the gut. Their anti-oxidant property is well known and protects arteries and capillaries as well as blood lipids and nervous tissue against oxidative stress. In contrast to beta-, gamma- and delta-tocopherol, alpha-tocopherol is preferentially conserved by the discriminating action of the liver alpha-tocopherol transfer protein, which also maintains plasma alpha-tocopherol concentration within a range of 20 to 40 microM. In the circulation, alpha-tocopherol, in association with the transfer-protein, is assembled into the very low-density lipoprotein and low-density lipoprotein particles and released for use by the peripheral tissues. Recent data suggest that alpha-tocopherol is not only an anti-oxidant but also a regulator of gene expression through its binding to nuclear receptors. The precise mechanism of regulating gene expression, however, is still unknown. The four tocopherols are ultimately degraded by omega-oxidation and subsequent beta-oxidations followed by the elimination of the metabolites in the bile and in the urine. Patients with a defect of the alpha-tocopherol transfer protein are unable to maintain their alpha-tocopherol reserves and progressively lose tendon reflexes and have signs and symptoms of spinocerebellar ataxia while plasma vitamin E level drops below 2 microg/ml.

Objective: This study sought to determine and evaluate the intakes and plasma concentrations of vitamin E (alpha-tocopherol), gamma-tocopherol, vitamin C, selenium, and carotenoids (alpha-carotene, beta-carotene, beta-cryptoxanthin, lutein/zeaxanthin, and lycopene) of nonsupplemented boys and girls, 4 to 8 years old, of Latino immigrants living in rural Nebraska., Design: Dietary intakes of the Latino children were estimated. Their plasma samples (fasting) were analyzed for vitamin E, vitamin C, selenium, and carotenoid concentrations. Data were evaluated by sex., Subjects: The subjects were a convenience sample of 4- to 8-year-old (n=29), apparently healthy, nonsupplemented children of Latino immigrants living in rural Nebraska., Statistical Analysis: Sex differences in parameter values were determined using general linear models; Pearson r was used for determining correlations., Results: No significant differences in parameter values were observed by sex, with the exception of plasma lutein/zeaxanthin concentration. The majority (69%) had plasma vitamin E (alpha-tocopherol) concentrations<0.516 mg/dL (12 micromol/L), which is indicative of vitamin E inadequacy, and over half (59%) reported consuming less than the Estimated Average Requirement for vitamin E. All subjects had plasma vitamin C and selenium concentrations indicative of adequacy (>0.41 mg/dL or >23 micromol/L, and >6.32 microg/dL or >0.8 micromol/L, respectively), and consumed at least the Recommended Dietary Allowances for these nutrients. The plasma carotenoid concentrations of the children may be useful as norms., Conclusions: These children of Latino immigrants who did not take supplements had low plasma vitamin E (alpha-tocopherol) concentrations but normal plasma vitamin C and selenium concentrations., Implications: Dietetics professionals and others involved in health care need to work with Latino immigrant parents so that their children consume adequate amounts of vitamin E.

In that data were not available on the vitamin E status of young children, the aim of the study was to evaluate the vitamin E status of preschool children by three commonly used criteria: vitamin E intakes, plasma alpha-tocopherol concentrations and plasma alpha-tocopherol/total lipid ratios. Twenty-two ethnically diverse preschool children (13 males and 9 females), aged 2 to 5 years, living in Lincoln, NE, served as subjects. The subjects were in two groups: 2-3 and 4-5 years old. Energy, fat, and alpha- and gamma-tocopherol intakes of the subjects were estimated utilizing two 24-h food recalls. Plasma alpha- and gamma-tocopherol and total lipid concentrations were ascertained. No significant differences by age grouping or gender were observed for vitamin E intakes, plasma alpha-tocopherol concentrations, plasma gamma-tocopherol concentrations and plasma alpha-tocopherol/total lipid ratios of subjects. Plasma alpha-tocopherol concentrations indicative of less than adequate status (<12 micromol/L) were observed in 91% of the children, and values <7 micromol/L (proposed cutoff for pediatric populations) in 68%. Sixty-eight percent of the subjects had plasma alpha-tocopherol/total lipid values <0.8 mg/g. The majority of the 2- to 5-year-old children included in the study had less than adequate vitamin E status.

Oxidative stress has been implicated in the development of Alzheimer's disease (AD). Consequently, antioxidant therapies including Vitamin E (VitE) supplementation for both prevention and treatment of neurodegenerative diseases currently appears to be a promising avenue of research. The aim of the present study was to examine the relationship between AD and the ApoE phenotype, lipid parameters and VitE levels in a large cohort of elderly subjects. No absolute deficit was observed in plasma VitE levels. However in AD, ApoE4 is not associated with an increase in total cholesterol (TC) and VitE levels. Moreover, our results suggest that oxidative stress-induced injury and protection by VitE in AD are related to the ApoE phenotype. Our study strongly supports the hypothesis of an impairment of lipophilic antioxidant delivery to neuronal cells in AD leading to a tissular antioxidant deficiency which could facilitate oxidative stress.

Patients who have the classic combination of progressive memory loss and problems retrieving stored knowledge that is characteristic of Alzheimer's disease may actually have another, treatable disorder. In these cases, appropriate evaluation can reveal the true diagnosis and guide therapy to stabilize or improve thinking and avert other complications. In this article, Dr Barrett explores 10 conditions that may be mistaken for Alzheimer's disease.

Vitamin A toxicosis and vitamin E deficiency was diagnosed in a commercial rabbit-breeding colony and was associated with reproductive abnormalities, abortions, and poor survivability of kits in the breeding colony. Paresis and muscular dystrophy were noted in juvenile rabbits. Another group of New Zealand White rabbits from the same commercial colony was used to assess the effect of vitamin E-based therapy on clinical signs, reproduction, and vitamin A and E serum and liver levels. Blood samples were taken before and after dietary changes and vitamin E therapy. Serum vitamin E remained low after feeding a diet containing the recommended levels of vitamin E. Administration of vitamin E for 2 weeks lowered the serum vitamin A levels and increased the vitamin E serum and liver levels. In conclusion, vitamin E therapy appears to be an effective treatment for hypervitaminosis A., (Copyright 2004 American Association for Laboratory Animal Science)

Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disorder due to mutations in the alpha-tocopherol transfer protein (TTPA) gene on chromosome 8q13. AVED patients have progressive spinocerebellar symptoms and markedly reduced plasma levels of vitamin E. We studied neurological phenotype at diagnosis, and long-term effect of vitamin E supplementation in 16 patients from 12 Italian families. The most common mutations were the 744delA and 513insTT. Two novel TTPA mutations were identified: a severe truncating mutation (219insAT) in a homozygous patient, and a Gly246Arg missense mutation (G246R) in a compound heterozygous patient. The missense mutation was associated with a mild and slowly progressive form of the disease. Vitamin E supplementation therapy allowed a stabilization of the neurological conditions in most of the patients. However, development of spasticity and retinitis pigmentosa was noted in a few patients during therapy. Prompt genetic characterization of AVED patients may allow an effective early treatment and an adequate genetic counseling.

Chronic gastrointestinal disease can result in nutritional deficiencies that can have a direct effect on the neurologic system. Although acute abnormalities can be corrected, symptoms are rarely reversible. Recognizing the appropriate abnormality is a crucial part of long-term treatment strategies in this population. Because motor and cerebellar symptoms can contribute to poor feeding, aggressive supplementation should begin as soon as symptoms are recognized. We present a patient with delayed onset and progressive hypovitaminosis E and briefly review diagnostic and therapeutic options.

A sheep flock experienced losses in weaned lambs from myopathy and hepatic lipidosis. Investigation revealed painful ambulation, illthrift, and unexpected death in lambs with normal selenium levels, deficient vitamin E levels, and elevated muscle and liver enzyme levels. Vitamin E deficiency should be considered when investigating myopathy and illthrift in lambs.