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GTR Home > Conditions/Phenotypes > Glycogen storage disease type X

Glycogen storage disease type X

Synonyms
Dimauro disease; GSD X; Glycogen storage disease due to phosphoglycerate mutase deficiency; MYOPATHY DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY; PGAMM DEFICIENCY; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF

Summary

Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.\n\nIn some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder. [from MedlinePlus Genetics]

Available tests

49 tests are in the database for this condition.

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Clinical tests (49 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GSD10, PGAM-M, PGAMM, PGAM2
    Summary: phosphoglycerate mutase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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