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Updated: Sep 9, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study
Lekha Chilakamarri1, Matthew B Neu1, Rebekah Barrick2
1Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.
Abstract:
This study evaluated the role of urine organic acid (UOA) analysis in eight infants initially flagged by California newborn screening and later diagnosed with Zellweger spectrum disorder (ZSD). Retrospective evaluation of UOA during workup of all patients with ZSD identified a consistent pattern of 2-hydroxysebacic acid, 3,6-epoxydeodecanedioic and 3,6-epoxytetracanedioic acids. These results highlight the value of UOA analysis in the evaluation of ZSD and provide images of clinically relevant peaks on UOA chromatograms.
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