Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Orpha code: 713OMIM code: 300653

Definition

A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.

Disease data
Classification

Disease

Synonyms
GSD due to phosphoglycerate kinase 1 deficiency
Glikogenoza spowodowana niedoborem kinazy fosfoglicerynianowej 1
GSD spowodowana niedoborem kinazy fosfoglicerynianowej 1
Glycogenosis due to phosphoglycerate kinase 1 deficiency
ORPHA code
713
OMIM code
300653
ICD10 code
E74.0
ICD11 code
5C51.3

No additional description.

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