Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene

Neurol India. 2018 Nov-Dec;66(6):1802-1804. doi: 10.4103/0028-3886.246264.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acetyl-CoA C-Acetyltransferase / genetics*
  • Acetyl-CoA C-Acyltransferase / deficiency*
  • Acetyl-CoA C-Acyltransferase / genetics
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Brain / pathology
  • Genetic Predisposition to Disease*
  • Homozygote
  • Humans
  • Infant
  • Male
  • Metabolome / genetics
  • Mutation / genetics*

Substances

  • Acetyl-CoA C-Acyltransferase
  • ACAT1 protein, human
  • Acetyl-CoA C-Acetyltransferase

Supplementary concepts

  • Beta ketothiolase deficiency