Incidental maternal glutaric aciduria type I detection through newborn screening: A case report
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 <i>GCDH</i> gene at a homozygote state consistent with an asymptomatic but high-excretor biochemical profile.
Authors
- Jean‐Paul Cristol (ORCID: https://orcid.org/0000-0001-8563-7278)
- Pierre-Edouard Grillet (ORCID: https://orcid.org/0000-0002-5695-5020)
- Frédérique Sabourdy (ORCID: https://orcid.org/0000-0003-4987-6823)
- Cécile Acquaviva
- Marie-Céline François-Heude
- Etienne Mondésert
- Cecilia Marelli
- Agathe Roubertie
- Stéphanie Badiou
Institutions
- Centre National de la Recherche Scientifique (FR)
- Université Toulouse III - Paul Sabatier (FR)
- Inserm (FR)
- École Pratique des Hautes Études (FR)
- Université de Montpellier (FR)
- Physiologie et Médecine Expérimentale du Coeur et des Muscles (FR)
- Centre de Recherches en Cancérologie de Toulouse (FR)
- Centre de Référence Déficits Immunitaires Héréditaires (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Institute for Regenerative Medicine & Biotherapy (FR)
- Hospices Civils de Lyon (FR)
- Institute for Neurosciences of Montpellier (FR)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2026-02-26
- DOI
- https://doi.org/10.1016/j.ymgmr.2026.101300
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00