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.