Abstract
Mevalonic aciduria is an inborn error in cholesterol biosynthesis, due to a deficiency of mevalonate kinase (EC 2.7.1.36), which has recently been discovered. So far two patients have been reported (Berger et al., 1985; Hoffmann et al., 1986).
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References
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de Klerk, J.B.C., Duran, M., Dorland, L., Brouwers, H.A.A., Bruinvis, L., Ketting, D. (1988). A Patient with Mevalonic Aciduria Presenting with Hepatosplenomegaly, Congenital Anaemia, Thrombocytopenia and Leukocytosis. In: Pollitt, R.J., Harkness, R.A., Addison, G.M. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1259-5_40
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DOI: https://doi.org/10.1007/978-94-009-1259-5_40
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