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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry
T Baykal1, I Karaaslan, G Gokcay
1Children's Hospital, Department of Nutrition and Metabolism, Istanbul University, 34390 Istanbul. Turkey. tbaykal@istanbul.edu.tr
Journal of Inherited Metabolic Disease
|December 25, 2004
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.

