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

摘要: 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 extracts cultured skin fibroblasts derived from the patient was approximately 2% mean value for controls. Family studies were carried out on mother, father a sister, all whom clinically well. transformed lymphoblasts parents 43%–52% control values. These data are consistent autosomal recessive mode inheritance deficiency.