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GTR Home > Conditions/Phenotypes > Glycogen storage disease, type VII

Glycogen storage disease, type VII

Synonyms
GSD VII; Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder. [from OMIM]

Available tests

84 tests are in the database for this condition.

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Clinical tests (84 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATP-PFK, GSD7, PFK-1, PFK-A, PFK1, PFKA, PFKX, PPP1R122, PFKM
    Summary: phosphofructokinase, muscle

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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