Glycogen Storage Disease Type I Presenting with Hypertension During Infancy
نویسندگان
چکیده
منابع مشابه
Psychosocial functioning in youth with glycogen storage disease type I.
OBJECTIVE To assess the quality of life and psychosocial functioning among pediatric patients with Glycogen Storage Disease (GSD) types Ia and Ib. METHODS Thirty-one youth with GSD types Ia and Ib and 42 healthy controls participated. Quality of life ratings from the GSD types Ia and Ib sample were compared with a previously reported clinical comparison sample. Children completed measures of ...
متن کاملGlycogen storage disease (type-III).
Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...
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We describe three children with type V glycogen storage disease, who were reluctant to climb hills. We suggest that this condition, usually described as being of adult onset, can often be diagnosed in childhood.
متن کاملPulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis.
A case of pulmonary arterial hypertension in a patient with type-Ia glycogen-storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study. It has been suggested that the occurrence of pulmonary arterial hypertension in type-Ia glycogen-storage disease could be due to an abnormal production of vasoconstrictive amines such as serot...
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STUDIES of haptoglobin, 1-3 group-specific component,3,4 and numerous other products of hepatic synthesis59 have shown that liver homografts permanently retain their original metabolic specificity after transplantation. Consequently, liver transplantation has been regarded for some years4 as a potentially decisive way to treat those inborn errors of metabolism which result partly or completely ...
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ژورنال
عنوان ژورنال: The Indian Journal of Pediatrics
سال: 2015
ISSN: 0019-5456,0973-7693
DOI: 10.1007/s12098-015-1732-4