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Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

rare

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.

Identifiers
MONDO:0010392 OMIM:300653Orphanet:713
Causal genes
PGK1
Part of
Disorder of glycogen metabolismDisorder of glycolysis
Also known as
glycogen storage disease caused by mutation in PGK1 · glycogenosis due to phosphoglycerate kinase 1 deficiency · GSD due to phosphoglycerate kinase 1 deficiency · PGK deficiency · PGK1 glycogen storage disease

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