Mevalonate kinase deficiency
| Mevalonate kinase deficiency | |
|---|---|
 A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features. | |
| Classification and external resources | |
| OMIM | 251170 |
| DiseasesDB | 29843 |
| 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
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 251170
- ↑ Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N (May–Jun 1993). "Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy". Pediatr. Neurol. 9 (3): 243–246. doi:10.1016/0887-8994(93)90095-T. PMID 8352861.
- ↑ Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F (Oct 2007). "Mevalonic aciduria: report of two cases". J. Inherit. Metab. Dis. 30 (5): 829. doi:10.1007/s10545-007-0618-7. PMID 17578678.
- ↑ Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (Oct 1985). "Mevalonic aciduria: an inborn error of cholesterol biosynthesis?". Clin. Chim. Acta 152 (1-2): 219–222. doi:10.1016/0009-8981(85)90195-0. PMID 4053401.
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