Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin?

J Inherit Metab Dis. 2001 Jun;24(3):413-4. doi: 10.1023/a:1010577207726.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • C-Reactive Protein / analysis
  • Craniofacial Abnormalities
  • Female
  • Fever
  • Humans
  • Immunoglobulin A / blood
  • Immunoglobulin D / blood*
  • Infant
  • Lymphatic Diseases
  • Male
  • Mevalonic Acid / urine*
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Syndrome

Substances

  • Immunoglobulin A
  • Immunoglobulin D
  • C-Reactive Protein
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Mevalonic Acid