French experience of urea cycle disorders presenting in adulthood

This study describes the largest cohort of urea cycle disorders diagnosed in adulthood, showing that these conditions can present later in life, often triggered by metabolic decompensation, or identified through family screening. It highlights that hyperammonemia can cause severe neurological, gastrointestinal, and psychiatric symptoms, frequently requiring intensive care and sometimes leading to death. The findings emphasize that adult-onset UCDs remain life-threatening and that clinicians should be aware of these late presentations, including in women with OTC deficiency.