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

K. M. Gibson, G. Hoffmann, W. L. Nyhan, L. Sweetman, R. Berger, R. le Coultre, G. P.A. Smit

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)250-252
Number of pages3
JournalEuropean Journal of Pediatrics
Volume148
Issue number3
DOIs
StatePublished - Dec 1988
Externally publishedYes

Keywords

  • Autosomal-recessive inheritance
  • Cholesterol bisoynthesis
  • Heterozygote
  • Mevalonate kinase deficiency
  • Mevalonic aciduria

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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