Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome
Research output: Contribution to journal › Article
Mevalonic aciduria is an inborn error of cholesterol and nonsterol isoprene biosynthesis due to mevalonate kinase deficiency (MKD; McKusick 251170). Urinary excretion of mevalonate is massively increased. Clinical manifestations include psychomotor retardation, hypotonia, dysmorphic features, failure to thrive, cataracts and hepatosplenomegaly. In addition to the multisystemic symptoms, patients present recurrent febrile attacks accompanied by adenopathy, arthralgias, rash and diarrhoea. These recurrent episodes of unexplained high fever with the associated features are also a characteristic finding of hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), a relatively benign condition in which elevated immunoglobulin D (IgD) itself appears not to be causative. The febrile episodes in HIDS have an average duration of 24 h to 7 days, varying frequency, and a tendency to decrease in both numbers and severity of the attacks with age. We report 12 HIDS patients in whom a minimally increased mevalonate excretion during febrile episodes appeared to be related to mevalonate kinase (MK) deficiency resulting from mutations in the gene encoding mevalonate kinase.
|Research areas and keywords||
Subject classification (UKÄ) – MANDATORY
|Number of pages||4|
|Journal||Journal of Inherited Metabolic Disease|
|Publication status||Published - 2000 Jun 27|