Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

Eur J Pediatr. 1988 Dec;148(3):250-2. doi: 10.1007/BF00441413.


Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father and a sister, all of whom were clinically well. Mevalonate kinase activity in extracts of cultured skin fibroblasts and transformed lymphoblasts derived from the parents of the patient were 43%-52% of the mean control values. These data are consistent with an autosomal recessive mode of inheritance for mevalonate kinase deficiency.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carboxy-Lyases / metabolism
  • Cells, Cultured
  • Cerebellar Ataxia / complications*
  • Child
  • Fibroblasts / enzymology
  • Humans
  • Male
  • Methylmalonyl-CoA Decarboxylase
  • Mevalonic Acid / urine*
  • Muscle Hypotonia / complications*
  • Phosphotransferases (Alcohol Group Acceptor)*
  • Phosphotransferases / deficiency*
  • Phosphotransferases / genetics
  • Phosphotransferases / metabolism


  • Phosphotransferases
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Carboxy-Lyases
  • Methylmalonyl-CoA Decarboxylase
  • Mevalonic Acid