Glycogen storage disease type Ia: molecular study in Brazilian patients
نویسندگان
چکیده
منابع مشابه
Liver transplantation for glycogen storage disease type Ia.
BACKGROUND/AIMS Hepatocellular carcinoma (HCC) most often occurs within hepatocellular adenomas (HCAs) in glycogen storage disease Ia (GSD Ia) patients. The objective of this retrospective study is to assess outcomes after liver transplantation (LT) for GSD Ia where the principal indication for transplantation was prevention of HCC. METHODS Petitions to the United Network for Organ Sharing re...
متن کاملContinuous glucose monitoring in the treatment of obesity in patients with glycogen storage disease type Ia
UNLABELLED Glycogen storage disease (GSD) type I is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe hypoglycaemia and increased production of lactic acid, triglyceride and uric acid. The most common type, glycogenosis type Ia, demands a balanced, sufficient carbohydrate intake to preserve normal 24-h glycaemia. Insufficient intake of c...
متن کاملGeneotype and phenotype in 20 patients with glycogen storage disease type Ia
Background Glycogen Storage Disease Type Ia (GSD Ia) is a group of autosomal recessive inborn errors of metabolism that is caused by deficiency in glucose-6-phosphatase,and it is the major subtype of Liver Glycogen Storage Disease (LGSD) cases. Patients afflicted with GSD Ia cannot maintain glucose homeostasis and manifest hypoglycemia, hepatomegaly, lactic academia. However, we cannot separate...
متن کاملGlycogen Storage Disease Type Ia in Canines: A Model for Human Metabolic and Genetic Liver Disease
A canine model of Glycogen storage disease type Ia (GSDIa) is described. Affected dogs are homozygous for a previously described M121I mutation resulting in a deficiency of glucose-6-phosphatase-α. Metabolic, clinicopathologic, pathologic, and clinical manifestations of GSDIa observed in this model are described and compared to those observed in humans. The canine model shows more complete reca...
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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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2001
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380170102