Mevalonic aciduria

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Mevalonic aciduria
Classification and external resources
Mevalonic acid
OMIM 251170
DiseasesDB 29843
MeSH D054078

Mevalonic aciduria, also called mevalonate kinase deficiency, is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.

[edit] Diagnosis

Mevalonic aciduria causes an accumulation of mevalonic acid, detected in the urine, resulting from the deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). It was first described in 1985.

Classified as an inborn error of metabolism, the disorder usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, among many other manifestations, and an overall failure to thrive.

Mevalonic aciduria has an autosomal recessive pattern of inheritance.
Mevalonic aciduria has an autosomal recessive pattern of inheritance.

[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

[edit] External links

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