Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene

Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene

Glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism at the interface of fat and carbohydrate metabolism. We report a male patient with GKD and a novel insertion of TT in exon 5 at position 378 of the GK cDNA (378–379insTT). This resulted in a premature stop codon and 0.8% norm...

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Bibliographic Details
Main Authors: Yao H. Zhang, Johan L. Van Hove, Edward R.B. McCabe, Katrina M. Dipple
Format: Article
Language:English
Published: Elsevier 2015-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Glycerol kinase deficiency
Fat metabolism
Type 2 diabetes mellitus
Gestational diabetes
Insulin resistance
Maternal–fetal interactions
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915300185

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http://www.sciencedirect.com/science/article/pii/S2214426915300185

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