TürkiyeResearch and clinical trials
6 patients with mild citrullinemia type 1 from Istanbul: no crises, but learning problems are common
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
At Cerrahpaşa, 6 children diagnosed with a mild form of citrullinemia type 1 were followed over a long period. Most of the children had been found through newborn screening. The median follow-up was 8.5 years, and none of the children had a metabolic crisis. Even so, half of the children had problems such as learning difficulties, attention deficit or developmental delay.
What does it mean for patients and families?
Even in the mild type, regular follow-up and developmental monitoring are important. This is a very small study; the results should be confirmed at other centers.
Source
Scientific paper: Is mild citrullinemia type I truly benign? a study of long-term clinical outcomes. Journal of Pediatric Endocrinology & Metabolism, 2026. DOI: 10.1515/jpem-2025-0722 · PubMed 42190069
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Citrullinemia type 1
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.