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Glycogen storage disease VII
rareMuscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
- Identifiers
- MONDO:0009295 OMIM:232800Orphanet:371
- Causal genes
- PFKM
- Part of
- Anemia due to erythrocyte enzyme disorderDisorder of glycogen metabolismDisorder of glycolysisFamilial hemolytic anemia
- Also known as
- glycogen storage disease caused by mutation in PFKM · Glycogen Storage Disease Type 7 · glycogen storage disease type VII · glycogenosis due to muscle phosphofructokinase deficiency · glycogenosis type 7
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