Glycerol Kinase Deficiency


Glycerol Kinase Deficiency (Hyperglycerolemia; Glyceroluria; GK Deficiency; GKD) is a rare metabolic disease caused by a deficiency in the GK gene which codes for glycerol kinase. A deficiency in this enzyme results in accumulation of glycerol in urine and serum. Symptoms include cryptorchism, trabismus, myopathy, lethargy, and vomiting. Treatment includes corticosteroids and acute glucose infusion.

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References

  1. Uniprot: P32189
  2. OMIM: Entry 307030
  3. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 50) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  4. Balducci R, Municchi G, Toscano V, Mangiantini A, Sabatini R, Caiola S, Tedeschi B, Orlandi L, Boscherini B: Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males. Clin Endocrinol (Oxf). 1995 Apr;42(4):437-9. Pubmed
  5. Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT: Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep;23(6):529-47. Pubmed
  6. Walker AP, Muscatelli F, Stafford AN, Chelly J, Dahl N, Blomquist HK, Delanghe J, Willems PJ, Steinmann B, Monaco AP: Mutations and phenotype in isolated glycerol kinase deficiency. Am J Hum Genet. 1996 Jun;58(6):1205-11. Pubmed