Glycerol kinase deficiency

Glycerol kinase deficiency (GKD) or hyperglycerolemia is a rare X-linked metabolic disorder caused by loss of glycerol kinase and characterized by accumulation of glycerol in blood and urine. There are three clinically defined forms - infantile, juvenile and adult. Infantile GKD can be severe with strong developmental delays and metabolic dysfunction and appears to result from contiguous deletions that take out glycerol kinase in addition to one or more neighboring genes responsible for congenital adrenal hypoplasia and/or Duchenne muscular dystrophy (DMD) (see our Muscular Dystrophy page for stocks relevant to DMD). The juvenile form is also variable with cases similar in severity to the infantile form, however, juvenile GKD is not associated with deletions of neighboring genes. The adult form is mildest and is often detected fortuitously.

General information links for Glycerol kinase deficiency:

Causative genes for Glycerol kinase deficiency
Human geneHuman proteinFly GeneComment
GKGlycerol kinaseGk1Fly models may need to reduce levels of both Gk1 and Gk2 (see FBrf0217823).
GKGlycerol kinaseGk2Fly models may need to reduce levels of both Gk1 and Gk2 (see FBrf0217823).

Stocks for studying Glycerol kinase deficiency
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
GK (human)PBac{UAS-hGK.HA}VK0003778406Expresses HA-tagged human GK under UAS control.
Gk1P{EPgy2}Gk1[EY21867]22516This P{EPgy2} insertion in noncoding sequence of the first exon is uncharacterized but is an unverified lethal suggesting it may disrupt function.
Gk1P{TRiP.HMC03423}attP4051849Expresses dsRNA for RNAi of Gk1 (FBgn0025592) under UAS control.
Gk1P{TRiP.GL00060}attP235188Expresses dsRNA for RNAi of Gk1 (FBgn0025592) under UAS control.
Gk2P{TRiP.HMC04837}attP4057522Expresses dsRNA for RNAi of Gk (FBgn0035266) under UAS control.
Gk2P{TRiP.GL00032}attP235164Expresses dsRNA for RNAi of Gk (FBgn0035266) under UAS control.