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 language | English (US) |
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Pages (from-to) | 250-252 |
Number of pages | 3 |
Journal | European Journal of Pediatrics |
Volume | 148 |
Issue number | 3 |
DOIs | |
State | Published - Dec 1988 |
Externally published | Yes |
Keywords
- Autosomal-recessive inheritance
- Cholesterol bisoynthesis
- Heterozygote
- Mevalonate kinase deficiency
- Mevalonic aciduria
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health