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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:
OMIM
orphanet
Genes of interest for Glycerol kinase deficiency
Human gene Human protein Fly gene Comment
GK Glycerol kinase Gyk Fly models may need to reduce levels of both Gk and Gyk (see FBrf0217823).
GK Glycerol kinase Gk Fly models may need to reduce levels of both Gk and Gyk (see FBrf0217823).

Stocks for studying Glycerol kinase deficiency
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
Gk1 P{EPgy2}Gk1[EY21867] 22516 This P{EPgy2} insertion in noncoding resquences of the first exon is uncharacterized but is an unverified lethal suggesting it may disrupt function.
Gk1 P{TRiP.HMC03423}attP40 51849 Expresses dsRNA for RNAi of Gyk (FBgn0025592) under UAS control.
Gk1 P{TRiP.GL00060}attP2 35188 Expresses dsRNA for RNAi of Gyk (FBgn0025592) under UAS control.
Gk2 P{TRiP.HMC04837}attP40 57522 Expresses dsRNA for RNAi of Gk (FBgn0035266) under UAS control.
Gk2 P{TRiP.GL00032}attP2 35164 Expresses dsRNA for RNAi of Gk (FBgn0035266) under UAS control.