NEONATAL INTERVENTION IN TYPE I GLYCOGEN STORAGE DISEASE (GSD)
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 ...
متن کاملGlycogen metabolism in the liver of the neonatal gsd/gsd and control (GSD/GSD) rat.
1. The metabolism of hepatic glycogen, labelled with [6-3H]glucose at day 19.5 of gestation and with 14C from [U-14C]galactose at delivery, was followed for 10 h in food-deprived gsd/gsd and control (GSD/GSD) neonatal rats. 2. In the affected pups glycogen was maintained at 12% (w/w) and there was no loss of incorporated radioactivity. 3. The 3H and 14C in glycogen from the controls were both d...
متن کاملThe activation of glycogen synthase in hepatocytes from rats with a glycogen storage disorder (gsd/gsd).
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 ...
متن کاملLiver transplantation in glycogen storage disease type I
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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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1977
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197704000-00891