Progressive development of renal cysts in glycogen storage disease type I
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 کاملRenal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition.
BACKGROUND AND OBJECTIVES Renal failure is a major complication in glycogen storage disease type I (GSD I). We studied the natural course of renal function in GSD I patients. We studied differences between patients in optimal and nonoptimal metabolic control and possible renoprotective effects of angiotensin converting enzyme inhibition. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS Thirty-ni...
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 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 ...
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.
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2016
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddw224