Mevalonic aciduria
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Mevalonic aciduria or mevalonicaciduria is a defect in the biosynthesis of cholesterol and isoprenoids, an accumulation of the mevalonic acid, detected in urine, resulting from the deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). It was first described in 1985.
It is an inborn error of metabolism and may result in developmental delay, anemia, hepatosplenomegaly, various dysmorphic features, psychomotor retardation, among many other manifestations, and eventually failure to thrive.
[edit] References
- Berger, R., Smit, G. P. A., Schierbeek, H., Bijsterveld, K., le Coultre, R. "Mevalonic aciduria: an inborn error of cholesterol biosynthesis?" Clin. Chim. Acta 152: 219-222, 1985.
- Mancini, J., Philip, N., Chabrol, B., Divry, P., Rolland, M.-O., Pinsard, N. "Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy." Pediat. Neurol. 9: 243-246, 1993
