Search

Liver transplantation were reported in patients with classic maple syrup urine disease in the literature. Branched chain alpha keto acid dehydrogenase activity can be improved in patients after transplant, and a protein-restricted diet is usually not needed. The first patient was a boy aged 2,5 years who presented with frequent ketosis attacks and epileptic seizures, and the second patient was an 11-month-old boy who also presented with frequent ketosis episodes, both despite adherence to diet therapy. Both patients received liver transplantations from live donors. A low protein diet was no longer required and no decline in cognitive functions was observed in either patient in the follow-up. We wanted to present these cases to show that despite a normal diet, plasma levels of branched- chain amino acids remained normal without any decline in cognitive function after liver transplantation in patients with classic maple syrup urine disease patients.

Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology of ASD remains unclear, although genetic defects may be detected in 10-20% of affected patients. Among these cases, the prevalence of inherited metabolic disorders (IMD) has not been extensively evaluated. IMDs responsible for ASDs are usually identified via clinical manifestations such as microcephaly, dysmorphic features, convulsions, and hepatosplenomegaly. Infrequently, patients with no additional clinical symptoms suggestive of an IMD may be diagnosed as having an idiopathic ASD. High consanguinity rates have resulted in an increased prevalence of IMDs in the Turkish population. The aim of this study was to explore the benefits of systematic screening for IMD among Turkish patients with ASDs. In our study, data were retrospectively collected for 778 children with ASDs. In all cases, the metabolic investigations included an arterial blood gas analysis, serum ammonia and lactate levels, a quantitative plasma amino acid analysis, a whole blood acylcarnitine profile via tandem mass spectrometry and a urine organic acid profile. Urinary glycosaminoglycan levels and homocysteine levels were screened in selected cases; 300 of the 778 patients with ASDs whose physical and metabolic investigations were complete and met this study's criteria were enrolled. Among the 300 children with autism, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with mucopolysaccharidosis type III, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.

Background Hereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite nitisinone treatment HT1 still carries the risks of hepatocellular carcinoma (HCC) and neuropsychological outcome. Methods A retrospective single center study was carried out based on the phenotype, therapy and outcome in 38 Turkish patients with HT1 diagnosed during the last 20 years. Results None of the patients was diagnosed on newborn screening. The patients were grouped according to acute, subacute and chronic forms of the disorder. The main clinical manifestations were hepatosplenomegaly, liver and renal tubular dysfunction. Thirty-six patients were treated with nitisinone. The mean duration of nitisinone treatment was 64 months and the mean dosage was 1.2 mg/kg/day. Dietary compliance problems were frequent. Eleven patients had cognitive evaluation (mean total IQ, 84 points). Six patients had living donor liver transplantation despite nitisinone treatment: three due to suspected HCC, two for non-compliance to diet, and one for both, at a median age of 90 months. Conclusion Nitisinone treatment is effective and improves both short- and long-term prognosis of HT1. Early diagnosis on newborn screening is needed because delay in treatment increases the risk of the persistence of hepatic disease and HCC. Interruption of the drug can lead to re-occurrence of hepatocellular damage and neurological crisis. Increased α-fetoprotein and new hypoechoic nodule formation are the warning signs for HCC.

Background Intestinal barriers, intestinal flora, and mucosal immunity are the main factors responsible for the development of various allergic and autoimmune diseases. The aim of this study was to investigate the relationship between the intestinal flora of children and the presence of type 1 diabetes, and to determine if gut microbiota could partly explain the etiology of the disease. Methods Fecal flora analysis was done using quantitative cultures on selective and non-selective media with different thermal and atmospheric conditions for bacterial and fungal growth. The study group consisted of 35 patients (16 female, 19 male; mean age, 10.73 ± 4.16 years), who had been followed by the University of Istanbul, Cerrahpasa Medical Faculty, Department of Pediatrics, and were newly diagnosed with type 1 diabetes. The control group consisted of 35 healthy subjects (15 female, 20 male; mean age, 9.96 ± 4.09 years), who were randomly selected and had similar demographics. Results Bifidobacterium colonization was lower in patients with type 1 diabetes compared to the control group, whereas Candida albicans and Enterobacteriaceae other than Echerichia coli colonization was increased. Conclusion A decrease in beneficial anaerobic bacteria levels and a concomitant increase in Enterobacteriaceae other than E. coli and C. albicans colonization may lead to a disturbance in the ecological balance of intestinal flora, which could be a triggering factor in type 1 diabetes etiology.

Objective: The aim of this research letter was to describe the use of N -carbamoyl-l-glutamate as first-line treatment of hyperammonemia in a 4-month-old female patient with propionic acidemia (PA). Methods: A 4-month-old female patient weighing 3.9 kg presented with decompensation with PA and initial hyperammonemia of 451 μg/dL. The patient was receiving a protein-restricted diet supplemented with l-carnitine at a dosage of 100 mg/kg/d during 2 consecutive months. Treatment with N -carbamoyl-l-glutamate was administered during 4 days on an outpatient basis at a dosage of 100 mg/kg/d, representing a dosage of 200 mg BID. The patient's hyperammonemia was monitored for 1 week. Results: The patient's ammonia concentration started to decrease on the first day of the initiation of the treatment with N -carbamoyl-l-glutamate, from 451 to 68 μg/dL (normal range, 10-80 μg/dL) at day 6 of follow-up. The patient did not require intravenous fluids, invasive procedures, or hospitalization. Conclusion: N -carbamoyl-l-glutamate, combined with a protein-restricted diet and l-carnitine supplementation, was apparently effective as first-line treatment of hyperammonemia in this infant with PA.

Background/aims: We aimed to estimate the seroprevalence of celiac disease, a gluten-sensitive enteropathy, and autoimmune thyroiditis in children with insulin-dependent diabetes mellitus in the Thrace region of Turkey. Methods: The population studied consisted of 33 children with insulin-dependent diabetes mellitus and 41 healthy children with demographic features similar to the study subjects. Free triiodothyronine, free thyroxine, thyroid-stimulating hormone, anti-thyroid peroxidase antibody, anti-thyroglobulin antibody, IgA, anti-endomysium IgA, and anti-gliadin IgA were measured in all cases and controls. Results: The serum levels of free triiodothyronine and free thyroxine were within the normal range in all cases. However, in one patient who had anti-thyroid peroxidase and antithyroglobulin antibodies, the thyroid-stimulating hormone level was high despite a normal free triiodothyronine and free thyroxine value. Ultrasonographic findings confirmed thyroiditis in this patient. Anti-thyroid peroxidase antibodies, anti-thyroglobulin antibodies, anti-endomysium IgA and anti-gliadin IgA were detected in 15.4%, 6%, 9.1% and 3% of the diabetic cases, respectively. None of these antibodies was detected in the control group. In the diabetic group, the seroprevalences of the antithyroid peroxidase antibodies and the anti-endomysium IgA were statistically higher than in the control group (p

The resent study has been carried out to investigate whether or not there is an increased risk of Hepatitis B Virus (HBV) infection in persons having Hepatitis C Virus (HCV) infection. Never interferon therapy taken anti-HCV positive cases and controls have randomly been studied. In anti-HCV positives, HCVRNA via polymerase chain reaction and in HBsAg positives, HBVDNA via molecular hybridization have been studied. HCVRNA positivity has been detected in 74 of 102 cases with anti-HCV positivity. Although eight cases of HBsAg carrierity (3.63), four cases of chronic hepatitis B (1.81), three cases of HCVRNA positivity (1.36) and one case of anti-HCV positivity alone (0.45) have been detected in 220 controls, only four cases of HBsAg carrierity and no case of chronic hepatitis B have been detected in 74 cases of HCVRNA positivity (p>0.05) and no case of carrierity or chronic infection of HBV has been detected in 28 cases of anti-HCV positivity alone (p>0.05). Beside that, 24 cirrhosis, five hepatocellular carcinoma, two membranoproliferative glomerulonephritis one of which is together with rheumatoid arthritis and cirrhosis, two lichen planus, three asthma, one prolymphocytic leukemia together with cirrhosis, one idiopathic thrombocytopenic purpura, one bronchiectasis, one monoclonalgammopathy of unknown significance and two cases of non-Hodgkin's lymphoma have been detected in 102 cases of anti-HCV positivity. Although the highly suspected relationship between HCV and many autoimmune diseases and malignancies, HCV is not a facilitating agent of HBV, either having chronic infection or being a carrier of it.

Benign joint hypermobility syndrome (BJHS) is a hereditable disorder of connective tissue, which is characterized by the occurrence of multiple musculoskeletal problems in hypermobile individuals who do not have a systemic rheumatological disease. Rectal, uterine and mitral prolapses, varicose veins, myopia and recurrent urinary tract infections are more common in patients with BJHS, which indicates a diffuse anomaly in the structure of connective tissue rather than a limited involvement of the musculoskeletal system. Asthma, as a complex trait disease, develops after environmental exposure to innocuous allergens, infectious agents and air pollutants in susceptible individuals on the basis of their genetics. However, genetic factors cannot explain the recent rise in the prevalence, morbidity, or mortality of asthma. Asthma may also be caused by a connective tissue defect. Changes in the mechanical properties of the bronchial airways and lung parenchyma may underlie the increased tendency of the airways to collapse in asthmatic children. In this paper, we postulate that BJHS may lead to persistent childhood wheezing by causing airway collapse through a connective tissue defect that affects the structure of the airways.