" /> Glycogen storage disease xiv - CISMeF





Preferred Label : Glycogen storage disease xiv;

Obsolete resource : true;

Moved to : 614921;

Alternative titles and symbols : Gsd14; Gsd xiv; Phosphoglucomutase 1 deficiency; Pgm1 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoglucomutase 1 gene (pgm1, 171900.0001);

Laboratory abnormalities : Increased serum creatine kinase; Increased serum ammonia; Decreased phosphoglucomutase 1 (pgm1) activity (1% of normal values);

Prefixed ID : 612934;

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03/05/2025


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