Mevalonate kinase deficiency
From Infogalactic: the planetary knowledge core
| Mevalonate kinase deficiency | |
|---|---|
| File:Mevalonic.jpg
A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features.
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 251170 |
| DiseasesDB | 29843 |
| Patient UK | Mevalonate kinase deficiency |
| MeSH | D054078 |
Mevalonate kinase deficiency, also called mevalonic aciduria,[1] is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.[2]
Diagnosis
Mevalonate kinase deficiency causes an accumulation of mevalonic acid in the urine, resulting from insufficient activity of the enzyme mevalonate kinase[3] (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36).
The disorder was first described in 1985.[4]
Classified as an inborn error of metabolism, mevalonate kinase deficiency usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, an overall failure to thrive and several other features.
Mevalonate kinase deficiency has an autosomal recessive pattern of inheritance.
Additional images
See also
External links
- Mevalonate kinase deficiency
- Mevalonic aciduria at NIH's Office of Rare Diseases
