Hepatocellular carcinoma in glycogen storage disease type IV

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Hepatocellular carcinoma in glycogen storage disease type IV.

A 13 year old patient with juvenile type IV glycogen storage disease died of the complications of hepatocellular carcinoma. To our knowledge this is the first reported case of hepatocellular carcinoma in association with type IV glycogen storage disease.

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Classification of the glycogen storage diseases according to the underlying enzyme defect has added considerably to our understanding of this group of diseases. Of the 6 types in which the biochemical abnormality has been characterized, the least common appears to be type IV, amylopectin-osis. The first case was described by Andersen in 1952, and the glycogen present in the liver and other orga...

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Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease.

Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by accumulation of abnormal glycogen in muscle or liver or both. Specific hepatic complications include liver adenomas and hepatocellular carcinoma (HCC). Hepatocellular carcinomas described in GSD type I are often due to the degeneration of liver adenomas. Hepatocellular carcinoma in GSD type III, howev...

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Liver transplantation for type IV glycogen storage disease.

T YPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's diseasel or amylopectinosis) in which the activity of branching enzyme alpha-I, 4-g1ucan: alpha-I, 4-g1ucan 6-g1ucosyltransferase is deficient in the liver as well as in cultured skin fibroblasts and other tissues.2,3 This branching enzyme is responsible for creating branch points in the normal glyc...

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Glycogen storage disease type IV: a case report.

Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by deficient glycogen branching enzyme (GBE). We report a 15-month-old female patient with GSD-IV who exhibited an abdominal distension and failure to thrive for 9 months. The patient showed hepatosplenomegaly with massive ascites. The laboratory findings showed abnormal liver functions including prolongation...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 2000

ISSN: 0003-9888

DOI: 10.1136/adc.82.6.479