Incidental maternal glutaric aciduria type I detection through newborn screening: A case report

Molecular Genetics and Metabolism Reports 2026 Open access

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Authors: Pierre-Edouard Grillet, Cécilia Marelli, Etienne Mondésert, Marie‐Céline François‐Heude, Agathe Roubertie, Frédérique Sabourdy, Jean‐Paul Cristol, Cécile Acquaviva, Stéphanie Badiou
DOI: 10.1016/j.ymgmr.2026.101300
Cited by: 0
References: 13

Abstract

The expansion of newborn screening in France (2023–2025) to include carnitine metabolism disorders has increased false positives, often due to unsuspected maternal metabolic conditions. We report the first french incidental diagnosis of a glutaric acidemia type I in a mother following a low C0 carnitine level detected on her newborn's screening. Genetic analysis revealed a previously undescribed mutation in the GCDH gene at a homozygote state consistent with an asymptomatic but high-excretor biochemical profile.

Fields of Study & Subjects

Metabolism and Genetic Disorders Lysosomal Storage Disorders Research Neonatal Health and Biochemistry

Publication details

Journal / source
Molecular Genetics and Metabolism Reports
Volume
46
Pages
101300–101300
Publication date
26 February 2026
Language
EN