Mol Genet Metab. 2025 Aug 21;146(1-2):109225. doi: 10.1016/j.ymgme.2025.109225. Online ahead of print.
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.
PMID:40876069 | DOI:10.1016/j.ymgme.2025.109225
