Glycogen storage disease type IV: a case report
نویسندگان
چکیده
منابع مشابه
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...
متن کاملGlycogen Storage Disease type Ib: a paediatric case report.
AIM This paper addresses the need of the dental literature to document cases of Glycogen Storage Disease (GSD) type Ib with focus on the paediatric management of oral and dental problems and the potential complications arising from the increased susceptibility to bacterial infections, cariogenicity, and blood diathesis. METHODS Previous medical and dental papers on GSD type Ib published from ...
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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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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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We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/μL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). (Korean J Pediatr 200...
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 1998
ISSN: 1011-8934,1598-6357
DOI: 10.3346/jkms.1998.13.2.211