" /> Phosphoglycerate kinase 1 deficiency - CISMeF





Preferred Label : Phosphoglycerate kinase 1 deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pgk1 deficiency;

Description : Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the phosphoglycerate kinase 1 gene (PGK1, 311800.0002).;

Laboratory abnormalities : Myoglobinuria after exertion; Decreased hemoglobin; Increased serum bilirubin; Increased reticulocyte count; Decreased activity of phosphoglycerate kinase 1;

Prefixed ID : #300653;

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31/07/2025


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