Complex glycerol kinase deficiency: A contiguous gene syndrome involving the Duchenne muscular dystrophy, glycerol kinase, and adrenal hypoplasia congenita loci

✍ Scribed by McCabe, Edward R. B. ;Guo, Weiwen ;Burris, Thomas P.

• Book ID: 102656072
• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 795 KB
• Volume: 2
• Category: Article
• ISSN: 1080-4013
• DOI: 10.1002/(sici)1098-2779(1996)2:3<160::aid-mrdd7>3.0.co;2-w

✦ Synopsis

Complex glycerol kinase deficiency is a contiguous gene syndrome that involves deletion of the glycerol kinase (GK) gene along with the loci for Duchenne muscular dystrophy (DMD) and/or adrenal hypoplasia congenita (AHC). The deletion breakpoints in these patients allowed identification of the critical regions for the GK and AHC genes, and both were identified using a positional cloning strategy. In addition t o complex glycerol kinase deficiency, there are also two distinct phenotypes characterizing isolated glycerol kinase deficiency, the juvenile and benign forms. The juvenile form has onset in the first weeks t o years of life with episodic decompensation. These episodes can be prevented or at least reduced in number by the use of a reduced-fat and therefore reduced-glycerol diet. Other families exhibit the benign form of isolated glycerol kinase deficiency. The affected individuals within these families have the biochemical features of this disorder but are asymptomatic.