Article
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
Pediatric research - 1 Apr 2006
Zhang Yao-Hua, Huang Bing-Ling, Jialal Ishwarlal, Northrup Hope, McCabe Edward R B, Dipple Katrina M
Abstract excerpt
Isolated glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism that is either symptomatic or asymptomatic. GKD is due to deletions of, or mutations within, the GK gene, and there is no genotype-phenotype correlation. We identified three patients with asymptomatic GKD, determined that they had GK splice-site mutations, and studied the stability of their GK mRNA to understand the molecular...
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