Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids

Clin Biochem. 2010 May;43(7-8):691-3. doi: 10.1016/j.clinbiochem.2009.10.004. Epub 2009 Oct 22.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acids / analysis*
  • Carnitine / analogs & derivatives*
  • Carnitine / analysis
  • Heptanoates / analysis*
  • Humans
  • Infant, Newborn
  • Kidney Diseases / diagnosis*
  • Kidney Diseases / metabolism
  • Liver Diseases / diagnosis*
  • Liver Diseases / metabolism
  • Neonatal Screening / methods*
  • Tandem Mass Spectrometry
  • Tyrosinemias / diagnosis*
  • Tyrosinemias / metabolism

Substances

  • Amino Acids
  • Heptanoates
  • acylcarnitine
  • succinylacetone
  • Carnitine