Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome

Research output: Contribution to journalArticle

Abstract

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.

Details

Authors
  • B. T. Poll-The
  • J. Frenkel
  • S. M. Houten
  • W. Kuis
  • M. Duran
  • T. J. De Koning
  • L. Dorland
  • M. M.J. De Barse
  • G. J. Romeijn
  • R. J.A. Wanders
  • H. R. Waterham
External organisations
  • University Medical Center Utrecht
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical and Health Sciences
Original languageEnglish
Pages (from-to)363-366
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume23
Issue number4
Publication statusPublished - 2000 Jun 27
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes