Chromosome Xp21 deletion syndrome

Definition:

Chromosome Xp21 deletion syndrome is an X-linked recessive defect characterized biochemically by hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol kinase locus together with X-linked Addison disease (AHX) or Duchenne muscular dystrophy (DMD) loci or both.

References:

[1]. 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]

[2]. H-Hilger Ropers, et al. X-linked mental retardation. Nat Rev Genet. 2005 Jan;6(1):46-57. [Content Brief]

[3]. Lola Rahib, et al. Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling. Eur J Hum Genet. 2007 Jun;15(6):646-57. [Content Brief]

[4]. Roger D Klein, et al. A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. Clin Chem. 2006 Oct;52(10):1864-70. [Content Brief]

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