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

Pierre-Edouard Grillet1,2, Cecilia Marelli3,4, Etienne Mondésert1,5

  • 1Department of Biochemistry and Hormonology, Univ Montpellier, CHU Montpellier, France.

Molecular Genetics and Metabolism Reports
|March 5, 2026
PubMed

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.

Keywords:
Glutaric aciduria type IIncidental diagnosisNewborn screening

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