Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism

J Inherit Metab Dis. 1998 Dec;21(8):864-6. doi: 10.1023/a:1005426920116.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acetyl-CoA C-Acyltransferase / deficiency*
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Cells, Cultured
  • Dicarboxylic Acids / urine
  • Energy Metabolism*
  • Fibroblasts / enzymology
  • Fumarates / urine
  • Humans
  • Infant
  • Isoleucine / metabolism*
  • Malates / urine
  • Male
  • Neurodegenerative Diseases / etiology*
  • Phenotype
  • Succinic Acid / urine

Substances

  • Dicarboxylic Acids
  • Fumarates
  • Malates
  • Isoleucine
  • malic acid
  • fumaric acid
  • Succinic Acid
  • Acetyl-CoA C-Acyltransferase