Mevalonate kinase deficiency and autoinflammatory disorders

N Engl J Med. 2007 Jun 28;356(26):2671-3. doi: 10.1056/NEJMp078083.
No abstract available

Publication types

  • Comment

MeSH terms

  • Bone Marrow Transplantation*
  • Cholesterol / biosynthesis
  • Fever / etiology
  • Humans
  • Inflammation / etiology*
  • Inflammation / therapy
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / therapy*
  • Mevalonic Acid / urine*
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism
  • Protein Prenylation
  • Transplantation, Homologous
  • Ubiquinone / biosynthesis

Substances

  • Ubiquinone
  • Cholesterol
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Mevalonic Acid