title: Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.
abstract: 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% normal GK activity. The mother is a carrier for this mutation and had gestational diabetes requiring insulin during this pregnancy but not in her previous pregnancy. Given the association between GKD and type 2 diabetes mellitus, it is interesting that the mother had gestational diabetes while carrying an affected fetus. Therefore, GKD is another disease where there may be a maternal-fetal interaction based on genotype. Further investigations may help elucidate the role of GKD in the carrier mother's gestational diabetes. In addition, these studies will provide better-informed counseling to families with GKD regarding the risk to carrier females.
authors: Department of Pediatrics, David Geffen School of Medicine at UCLA, and Mattel Children's Hospital UCLA, Los Angeles, CA, USA 90095-1752.
authors: Yao H
authors: YH
authors: Zhang
authors: Department of Pediatrics, Catholic University Leuven, Leuven, B3000, Belgium.
authors: Johan L
authors: JL
authors: Van Hove
authors: Department of Pediatrics, David Geffen School of Medicine at UCLA, and Mattel Children's Hospital UCLA, Los Angeles, CA, USA 90095-1752 ; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA 90095-7088 ; InterDepartmental Program, Biomedical Engineering, Henry Samulei School of Engineering and Applied Sciences at UCLA, Los Angeles, CA, USA 90095.
authors: Edward R B
authors: ER
authors: McCabe
authors: Department of Pediatrics, David Geffen School of Medicine at UCLA, and Mattel Children's Hospital UCLA, Los Angeles, CA, USA 90095-1752 ; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA 90095-7088 ; InterDepartmental Program, Biomedical Engineering, Henry Samulei School of Engineering and Applied Sciences at UCLA, Los Angeles, CA, USA 90095.
authors: Katrina M
authors: KM
authors: Dipple
keywords: Glycerol kinase deficiency; fat metabolism; gestational diabetes; insulin resistance; maternal-fetal interactions; type 2 diabetes mellitus