Article Dans Une Revue Molecular Genetics and Metabolism Reports Année : 2026

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

Résumé

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.

Dates et versions

hal-05540692 , version 1 (06-03-2026)

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Pierre-Edouard Grillet, Cecilia Marelli, Etienne Mondésert, Marie-Céline Francois-Heude, Agathe Roubertie, et al.. Incidental maternal glutaric aciduria type I detection through newborn screening: A case report. Molecular Genetics and Metabolism Reports, 2026, 46, pp.101300. ⟨10.1016/j.ymgmr.2026.101300⟩. ⟨hal-05540692⟩
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