Hyperglycerolemia
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| Hyperglycerolemia | |
| Classification and external resources | |
| ICD-10 | E74.8 |
|---|---|
| OMIM | 307030 |
| DiseasesDB | 29827 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
Hyperglycerolemia is a condition characterized by high levels of glycerides, including monoglycerides, diglycerides and triglycerides, in the blood stream. It is an X-linked genetic disorder caused by a mutation or deletion of Xp21.2, the glycerol kinase gene.[1]
It is often accompanied with adrenal hypoplasia, whose locus is near that of hyperglycerolemia.[2]
Hyperglycerolemia is also referred to as "glycerol kinase deficiency", "gk deficiency", "gkd", and "gk1 deficiency".[3]
See also
References
- ↑ Hammond et al. (1985-01-05). "Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes". Lancet. 1 (8419): 54. PMID 2856983.
|access-date=requires|url=(help) - ↑ seltzer et al. (1985). "Adrenal dysfunction in glycerol kinase deficiency". Biochemical Medicine. 33 (2): 289–199. PMID 2988520. Unknown parameter
|month=ignored (help);|access-date=requires|url=(help) - ↑ "Glycerol kinase deficiency information". Diseases Database. Retrieved 2012-02-28.