Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D

J Inherit Metab Dis. 2001 Jun;24(3):411-2. doi: 10.1023/a:1010525206818.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Fever*
  • Fibroblasts / enzymology
  • Humans
  • Immunoglobulin A / blood
  • Immunoglobulin D / blood*
  • Male
  • Mevalonic Acid / urine
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics

Substances

  • Immunoglobulin A
  • Immunoglobulin D
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Mevalonic Acid