An Unusual Peak in a Common Clinical Presentation

Clin Chem. 2021 Apr 29;67(5):799-801. doi: 10.1093/clinchem/hvab012.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carnitine / analogs & derivatives
  • Carnitine / blood
  • Diagnosis, Differential
  • Female
  • Glutamate Formimidoyltransferase / deficiency*
  • Glutamate Formimidoyltransferase / genetics
  • Humans
  • Infant
  • Leukomalacia, Periventricular / diagnosis*
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics

Substances

  • acylcarnitine
  • Glutamate Formimidoyltransferase
  • Carnitine

Supplementary concepts

  • Glutamate formiminotransferase deficiency