Mevalonic aciduria
| Mevalonate kinase deficiency | |
 | |
|---|---|
| A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features. | |
| OMIM | 251170 |
| DiseasesDB | 29843 |
| MeSH | D054078 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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.
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 251170
- ↑ Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N (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. Unknown parameter
|month=ignored (help) - ↑ Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F (2007). "Mevalonic aciduria: report of two cases". J. Inherit. Metab. Dis. 30 (5): 829. doi:10.1007/s10545-007-0618-7. PMID 17578678. Unknown parameter
|month=ignored (help) - ↑ Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (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. Unknown parameter
|month=ignored (help)
Template:Peroxisomal disorders Template:Defects of cholesterol and steroid metabolism