Glycogen Storage Disease Type VII (definition)

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Glycogen Storage Disease Type VII

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Definition: 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.

do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

Other names Tarui Disease; Glycogenosis 7; Taruis Disease; Phosphofructokinase Deficiency, Muscle; Phosphofructokinase Deficiencies, Muscle; Muscle Phosphofructokinase Deficiencies; Disease, Tarui's; Disease, Tarui; Deficiencies, Muscle Phosphofructokinase; Tarui's Disease; Muscle Phosphofructokinase Deficiency; Deficiency, Muscle Phosphofructokinase

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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