Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment

J Inherit Metab Dis. 2000 Jun;23(4):371-4. doi: 10.1023/a:1005639516342.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine / analogs & derivatives
  • Adenosine / cerebrospinal fluid
  • Aminoimidazole Carboxamide / analogs & derivatives
  • Aminoimidazole Carboxamide / cerebrospinal fluid
  • Central Nervous System Diseases / enzymology*
  • Female
  • Fumarate Hydratase / deficiency*
  • Fumarate Hydratase / genetics
  • Fumarates / cerebrospinal fluid*
  • Fumarates / urine
  • Humans
  • Infant
  • Purines / cerebrospinal fluid*
  • Ribonucleosides / cerebrospinal fluid

Substances

  • Fumarates
  • Purines
  • Ribonucleosides
  • succinylaminoimidazole carboxamide riboside
  • Aminoimidazole Carboxamide
  • succinyladenosine
  • fumaric acid
  • Fumarate Hydratase
  • Adenosine