Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

J Inherit Metab Dis. 2004;27(6):781-2. doi: 10.1023/b:boli.0000045839.08631.9d.

Abstract

Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / blood*
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Female
  • Humans
  • Hydroxyproline / blood*
  • Infant, Newborn
  • Mass Spectrometry
  • Neonatal Screening
  • Turkey

Substances

  • Hydroxyproline