Glycerol kinase deficiency

Definition:

Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic disorder with growth and psychomotor retardation.

References:

[1]. A H Huq, et al. X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death. Hum Mol Genet. 1997 Oct;6(11):1803-9. [Content Brief]

[2]. D R Sjarif, et al. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency. J Med Genet. 1998 Aug;35(8):650-6. [Content Brief]

[3]. D R Sjarif, et al. Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep;23(6):529-47. [Content Brief]

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