User:Tlyons11/sandbox
 | This article was the subject of an educational assignment in 2014 Q3. Further details were available on the "Education Program:University of Western Ontario/Advanced Genetics (Fall 2014)" page, which is now unavailable on the wiki. |
| Tlyons11/sandbox |
|---|
Hyperglycerolemia is a medical condition in humans that arises as a result of glycerol kinase deficiency (also known as “k deficiency”, “gkd”, or “gk1 deficiency”[1]). Hyperglycerolemia is characterized by high levels of glycerides, including monoglycerides, diglycerides and triglycerides, in the urine or the plasma of the bloodstream. It is a rare X-linked recessive disorder effecting glycerol metabolism, and can be seen in different degrees of severity.
The glycerol kinase gene
[edit]The glycerol kinase (also known as the GK or GK1 gene) is the gene responsible for hyperglycerolemia. It is a protein coding gene that belongs to the FFGY carbohydrate kinase family, and is involved in regulation of glycerol uptake and metabolism[2]. Under normal conditions it functions to catalyze the phosphorylation of glycerol to make adenosine diphosphate (ADP) and glyceraldehyde 3-phosphate (G3P)Cite error: The <ref> tag has too many names (see the help page).. The GK gene is located at position 21.3 on the short (p) arm of the X chromosome, and is estimated to be from base pair number 30 653 358 to base pair number 30 731 461.[2] Research has evidence to support that the gene is more than 50 kilobases long with atleast 21 exons. This gene is highly expressed in the liver, kidney’s and testis.
Forms of hyperglycerolemia
[edit]Hyperglycerolemia is found at three different levels severity:
- Infantile: Also known as Complex GKD, infantile hyperglycerolemia is the most severe form of the disorder, caused by a deletion of the Xp21 gene on the X chromosome. Patients suffer from severe developmental delay and also encounter cogenital adrenal hypoplasia and/or muscular dystrophy, due to the fact that these three genes lay in the same region of the chromosome[3].
- Juvenile: Patients of juvenile hyperglycerolemia experience mild symptoms such as periods of vomiting, low pH of the blood, and disorders of consciousness. This strain is a result of a deficiency in the glycerol kinase gene[3].
- Adult: Individuals with the adult form of hyperglycerolemia experience no symptoms, and detection often occurs accidentally. It is also caused by a deficiency in the glycerol kinase gene[3].
See also
[edit]References
[edit]- ^ "Glycerol kinase deficiency information". Diseases Database. Retrieved 2012-02-28.
- ^ a b "GK". U.S. National Library of Medicine. Retrieved 2014-11-01.
- ^ a b c Francke, U.; Harper, J. F.; Darras, B. T.; Cowan, J. M.; McCabe, E. R.; Kohlschütter, A.; Seltzer, W. K.; Saito, F.; Goto, J.; Harpey, J. P.; Wise, J. E. (1987). "Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: Molecular genetic evidence for deletions". American journal of human genetics. 40 (3): 212–227. PMC 1684111. PMID 2883886.
External links
[edit]
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
 | This article about a disease of the blood or immune system is a stub. You can help Wikipedia by expanding it. |