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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
Summary
Newborn screening expansion revealed unsuspected maternal metabolic conditions, leading to false positives. A mother was incidentally diagnosed with glutaric acidemia type I due to her newborn's low carnitine level, highlighting a new mutation.
Area of Science:
- Medical Genetics
- Metabolic Disorders
- Newborn Screening
Background:
- France expanded newborn screening (2023-2025) to include carnitine metabolism disorders.
- This expansion has led to an increase in false positives, often linked to maternal metabolic conditions.
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