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Mucopolysaccharidosis type I (MPS I) is the prototype lysosomal storage disease. It is characterized by a deficiency of the enzyme a-L-iduronidase, resulting in the accumulation of glycosaminoglycans in different tissues and organs with varying severity and three clinical presentations according to severiry. We report the case of a 19-year-old male patient with a confirmed diagnosis of MPS I and enzymatic treatment with a favorable clinical response. The objective of this report is to describe the clinical picture, course and treatment of MPS I, and the role of the internist in disease monitoring and management of complications. [ABSTRACT FROM AUTHOR]

Gaucher disease (EG) is a heterogeneous sphingolipidoses due to mutations in the gene that encodes the lysosomal enzyme glucocerebrosidase responsive for hydrolysis of glucosylceramide deposit with this in mononuclear phagocytes. There are 3 types of disease: I form of adult or not neuronopathic; II acute neuronopathic or infantile form;III neuronophatic subacute or juvenile form (Subtypes a, b, c). Since 1991 enzyme replacement therapy has decreased mobility and mortality. Presentation type I respond well not the answer type II - response to type III is incomplete without evidence there is even better neurological injury may be used to attenuate the visceral injury and bone. We report the case of patient who presents with EG type III and treated with enzyme replacement moderately satisfactory answer to the present time especially in the area neurologist. [ABSTRACT FROM AUTHOR]

In this work the specific activity of the antioxidant enzymes catalase and guaiacol peroxidase was evaluated in fresh extracts of mulberry (Morus alba) varieties and hybrids, obtained from the roots, stems and leaves. The samples of the different organs under study were randomly collected, macerated in liquid nitrogen, resuspended in sodium phosphate buffer and centrifuged. The supernatant was used for the enzymatic determinations. The simple classification ANOVA and Duncan´s multiple range test were used for mean comparison (P<0,05). The highest values of specific catalase and peroxidase activity were found, in general, in the leaves, followed by stems and roots. The varieties and hybrids with higher specific activity for both enzymes were: Tigreada, Criolla, IZ 15-9 and IZ 64. The results showed the protective antioxidant role of the extracts, mainly from leaves, from the important functions played by these enzymatic systems in the elimination of reactive oxygen species. The potential of this species for animal nutrition and health is corroborated, which gives it more value as a multipurpose forage plant. It is recommended to continue making other determinations of compounds with antioxidant activities and studying the catalase and peroxidase enzymatic systems in multipurpose species, such as M. alba, used in animal feeding and traditional medicine. [ABSTRACT FROM AUTHOR]

Introduction: Mucopolisaccharidosis I (MPS I) is caused by deficiency of the enzyme α-L-iduronidasa which results in chronic lisosomal deposit of glicosaaminoglicanos (mucopolisacaridos) with cell, tissues and organic damage. It causes death by respiratory failure in patients between the 10 and 40 years of age. At present, the available enzymatic therapy relieves many of the signs and symptoms of this disease. Case report. A five-year-old girl, diagnosed with Type I mucopolysaccharidosis, confirmed by an a-L-iduronidase of 0.4 umol/L/h. (2.2 to 11.7) At three years of age she had ventilation tubes implanted in both timpanic membranes. Tonsillectomy was performed and ventilation tubes were implanted again at 4 years of age. This same year she was operated for correction of scoliosis. In order to perform a cerebral and cervical spine magnetic nuclear resonance she was anesthesized under oxygen (5 L/min) and 3% sevofluorane. Endotracheal intubation at 6 L/min by mask was carried out; she was given 200 mcg of atropine, 20 mcg of fentanyl, and 50 mg of propofol by vein which caused marked sinus bradycardia followed by cardiac arrest. A spontaneous 110/min heart rate took place whence a second irreversible cardiac arrest occurred. Autopsy showed abundant systemic glicosaaminoglicane deposits. Conclusion: There is great anesthetic risk for the patients with MPSI because of the shortness of their neck, infiltration of soft tissues of the upper airway, macroglosia, adenoamigdaline hypertrophy, and atlanto-occipital instability which make access to the airway route and intubation very difficult. These patients should only be put under general anesthesia in facilities where the anesthesiologists have experience in difficult airway intubation. [ABSTRACT FROM AUTHOR]