Glycogen storage disease type XIV

Definition:

Glycogen storage disease type XIV(GSD-XIV), also known as congenital disorder of glycosylation type It, is an autosomal recessive disorder of glycogen metabolism. GSD-XIV is caused by mutations in the PGM1 gene, which encodes the phosphoglucomutase. The clinical manifestations include hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.

References:

[1]. Laura C Tegtmeyer, et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014 Feb 6;370(6):533-42. [Content Brief]

[2]. Tanya Stojkovic, et al. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med. 2009 Jul 23;361(4):425-7. [Content Brief]

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