Glycogen storage disease type 15



GSD XIV;Phosphoglucomutase 1 Deficiency;PGM1 Deficiency

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Glycogen storage disease type XIV is a inherited metabolic disorder caused by deficiency in the enzyme activity phosphoglucomutase-1, which plays a key role in the first steps of glycogen metabolism.

Glycogen storage disease type XIV is associated with PGM1 (1p31.3) gene mutations, which encodes the phosphoglucomutase-1. Phosphoglucomutase-1 is the enzyme responsible for the conversion of glucose-1-phosphate to glucose-6-phosphate and vice versa. So its deficiency causes a lock anaerobic glycogenolysis. The alterations are inherited as autosomal recessive.

Patients do not experience second wind during sports. The cramps or rhabdomyolysis after intense exercise are some of the associated symptoms. Diagnostic with muscle biopsy shows accumulation of free glycogen in the sarcoplasm and sarcolemma, maintaining a normal structure.

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Tomado de GeneReviews




Autosomal recessive