Glycerol kinase deficiency

Glycerol kinase deficiency
Glycerol kinase deficiency
Other names	GKD

Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research branch classifies GKD as a rare disease, known to affect fewer than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita. Combinations of these three genetic defects including GKD are addressed medically as Complex GKD.^[1]

^ Office of Rare Diseases, National Institutes of Health (25 January 2005). "Annual Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health 1997". Archived from the original (pdf) on 30 July 2012. Retrieved 21 December 2012.

[NIH-1] Office of Rare Diseases, National Institutes of Health (25 January 2005). "Annual Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health 1997". Archived from the original (pdf) on 30 July 2012. Retrieved 21 December 2012.

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