Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study

IF 3.5 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM

Molecular genetics and metabolism Pub Date : 2025-08-21 DOI:10.1016/j.ymgme.2025.109225

Lekha Chilakamarri , Matthew B. Neu , Rebekah Barrick , Suzette M. Huguenin , Jose E. Abdenur , Tina M. Cowan , Kristina P. Cusmano-Ozog , Christina G. Tise

引用次数: 0

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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尿液有机酸分析作为评估齐薇格谱系障碍的工具：回顾性研究

本研究评估了尿有机酸（UOA）分析在8名婴儿中的作用，这些婴儿最初是通过加州新生儿筛查发现的，后来被诊断为齐薇格谱系障碍（ZSD）。对所有ZSD患者随访期间UOA的回顾性评估发现，2-羟基癸二酸、3,6-环氧十二烷二酸和3,6-环氧四烷二酸具有一致的模式。这些结果突出了UOA分析在评价ZSD中的价值，并提供了UOA色谱上临床相关峰的图像。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular genetics and metabolism 生物-生化与分子生物学

CiteScore

5.90

自引率

7.90%

发文量

621

审稿时长

34 days

期刊介绍： Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.