Glycogen storage disease due to phosphoglycerate mutase deficiency

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Name:
Glycogen storage disease due to phosphoglycerate mutase deficiency
Description:
A rare metabolic myopathy characterized by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria.
ORPHAcode:
97234
Synonyms:
GSD due to phosphoglycerate mutase deficiency
GSD type 10
Glycogenosis due to phosphoglycerate mutase deficiency
Muscle phosphoglycerate mutase deficiency
Myopathy due to phosphoglycerate mutase deficiency
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14