Isolated glycogen storage disease of the heart
نویسندگان
چکیده
منابع مشابه
Pompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
متن کامل[Glycogen storage disease].
The glycogen storage diseases (GSD) or glycogenoses are a heterogenous group of inborn errors of carbohydrate metabolism that lead to abnormal concentrations or structure of glycogen. Several well defined disorders of glycogen metabolism, have been described based on the identified enzymatic defects or sometimes the distinctive features(l). We wish to report our experience with one such case of...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
متن کاملClinical analysis of five infants with glycogen storage disease of the heart--Pompe's disease.
Five cases of infant glycogen storage disease of the heart are reported. Their ages ranged from 2 to 7 months. They all presented with generalized hypotonia and respiratory tract infections. Four of the diagnosis were proven by skeletal muscle biopsy and enzymatic assay of alpha-1,4-glucosidase. All 5 infants had clinical signs of cardiac failure, cardiomegaly shown by chest X-ray, short PR int...
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ژورنال
عنوان ژورنال: Russian Journal of Cardiology
سال: 2019
ISSN: 2618-7620,1560-4071
DOI: 10.15829/1560-4071-2019-10-110-117