Mevalonic aciduria

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.

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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.

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