HYPERURICEMIA IN GLYCOGEN STORAGE DISEASE TYPE I (GSD-1)
نویسندگان
چکیده
منابع مشابه
[Platelet dysfunction in glycogen storage disease type I (GSD-I) (author's transl)].
A hemorrhagic tendency has been observed in patients with glycogen storage disease Type I (GSD-l). We have studied the hemostatic mechanism in six patients with GSD-l who have mild to severe bleeding tendencies. All exhibited abnormalities of platelet function (decreased prothrombin consumption, abnormal aggregation reactions, prolonged bleeding time, and low platelet adhesiveness). The degree ...
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Rats from the NZR/Mh strain have a genetically-determined deficiency of phosphorylase b kinase activity in the liver which in homozygotes &d/g@ produces a poor activation of glycogen phosphorylase and very high liver glycogen concentrations [I]. They also have low active glycogen synthase activities [l] and previous studies on liver homogenates have shown an inhibition of glycogen synthasephosp...
متن کاملPsychosocial 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 ...
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Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the complex. GSDIa is characterized by fasting intolerance and subsequent metabolic derangements. In addition to these ...
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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: Pediatric Research
سال: 1977
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197704000-00870