Hyperfiltration and renal disease in glycogen storage disease, type I
نویسندگان
چکیده
منابع مشابه
Glycogen 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 ...
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 کاملType V glycogen storage disease.
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 کاملGlycogen storage disease type I: laboratory data and diagnosis.
A study of 20 cases of glycogen storage disease type I has shown differences from the classical picture. Hyperuricemia was observed in fewer than half of the cases. All patients had increased triglycerides in serum, but fewer than two thirds had increased concentrations of total cholesterol. There was a consistent increase of aminotransferases in serum. Many textbooks discuss hyperuricemia, lac...
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 ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Kidney International
سال: 1989
ISSN: 0085-2538
DOI: 10.1038/ki.1989.133