Article
Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Human genetics - 1 Jul 2001
Dipple K M, Zhang Y H, Huang B L, McCabe L L, Dallongeville J, Inokuchi T, Kimura M, Marx H J, Roederer G O, Shih V, Yamaguchi S, Yoshida I, McCabe E R
Abstract excerpt
Glycerol kinase deficiency (GKD) occurs as part of an Xp21 contiguous gene syndrome or as isolated GKD. The isolated form can be either symptomatic with episodic metabolic and central nervous system (CNS) decompensation or asymptomatic with hyperglycerolemia and glyceroluria only. To better understand the pathogenesis of isolated GKD, we sought individuals with point mutations in the GK coding region and measured...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.