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

摘要

{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.