Gout, anemia, and hepatomegaly in a young man with glycogen storage disease.
Summary of "Gout, anemia, and hepatomegaly in a young man with glycogen storage disease."
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Affiliation
From the Departments of *Medicine and †Pathology, National University Health System, Singapore, Singapore.
Journal Details
This article was published in the following journal.
Name: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases
ISSN: 1536-7355
Pages: 222-3
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22653625
- DOI: http://dx.doi.org/10.1097/RHU.0b013e3182598ed1
Medical and Biotech [MESH] Definitions
Glycogen Storage Disease Type Iii
An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
Glycogen Storage Disease Type I
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
Glycogen Storage Disease Type Viii
An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Glycogen Storage Disease Type Vi
A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.
Glycogen Storage Disease Type Vii
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
PubMed Articles
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The glycogen storage diseases are a rare form of inherited metabolic disease affecting intracellular glycogen metabolism, and several studies suggest glycogen storage disease (GSD) III predisposes pat...
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Glycogenic hepatopathy (GH ) is a rare cause of serum transaminase elevations in type 1 diabetes mellitus. We describe a 13-year-old male with a history of poorly controlled type 1 diabetes mellitus w...
McArdles disease (glycogen storage disease type v) is a rare condition in which energy-metabolism in the muscle is hampered. A case report is presented and the possible risk for perioperative complica...
Glycogen Storage Disease Type III diagnosis and management guidelines.
PURPOSE:: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen de...
Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The...
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Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the...
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