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Peer-reviewedCC BY 4.0Molecular Genetics and Metabolism Reports

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

  • Pierre-Edouard Grillet
  • Cecilia Marelli
  • Etienne Mondésert
  • Marie-Céline Francois-Heude
  • Agathe Roubertie
  • Frédérique Sabourdy
  • Jean-Paul Cristol
  • Cécile Acquaviva
  • Stéphanie Badiou
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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.

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Cite

BibTeXRIS
BibTeX
@article{grillet2026incidental,
  title = {{Incidental maternal glutaric aciduria type I detection through newborn screening: A case report}},
  author = {Pierre-Edouard Grillet and Cecilia Marelli and Etienne Mondésert and Marie-Céline Francois-Heude and Agathe Roubertie and Frédérique Sabourdy and Jean-Paul Cristol and Cécile Acquaviva and Stéphanie Badiou},
  journal = {Molecular Genetics and Metabolism Reports},
  year = {2026},
  month = oct,
  doi = {10.1016/j.ymgmr.2026.101300},
  url = {https://hal.science/hal-05540692v1},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Incidental maternal glutaric aciduria type I detection through newborn screening: A case report
AU  - Pierre-Edouard Grillet
AU  - Cecilia Marelli
AU  - Etienne Mondésert
AU  - Marie-Céline Francois-Heude
AU  - Agathe Roubertie
AU  - Frédérique Sabourdy
AU  - Jean-Paul Cristol
AU  - Cécile Acquaviva
AU  - Stéphanie Badiou
PY  - 2026
DA  - 2026/10/27
JO  - Molecular Genetics and Metabolism Reports
DO  - 10.1016/j.ymgmr.2026.101300
UR  - https://hal.science/hal-05540692v1
AB  - 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.
SN  - 2214-4269
ER  -