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

Abstract

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 to 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 to 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. © 1996 Wiley‐Liss, Inc.

Complex glycerol kinase deficiency – long-term follow-up of two patients

“…Complex glycerol kinase deficiency was firstly described by McCabe et al . in two brothers with glyceroluria, growth retardation, strabismus, osteoporosis and intellectual disability [ 1 ]. In 1985 two different groups of scientist revealed a deletion of Xp21 chromosome region in patients with combination of glycerol kinase deficiency, adrenal hypoplasia and Duchenne muscular dystrophy [ 8 ].…”

“…Complex glycerol kinase deficiency (CGKD, OMIM: 300679, ORPHA: 261476) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21 critical chromosomal region. The clinical image of the disease depends on its size and range of deletion [ 1 ]. CGKD is inherited as the X-linked recessive disorder, therefore predominately affects males.…”