" /> Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - CISMeF





Preferred Label : Glycogen storage disease due to phosphoglycerate kinase 1 deficiency;

ICD-11 definition : Phosphoglycerate kinase (PGK) deficiency isan inborn error of netabolism characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.;

ICD-11 synonym : Glycogenosis due to phosphoglycerate kinase 1 deficiency; GSD due to phosphoglycerate kinase 1 deficiency;

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Phosphoglycerate kinase (PGK) deficiency isan inborn error of netabolism characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.

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31/07/2025


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