JapanDiagnosis and screening
Japan tests newborn screening to detect urea cycle disorders such as OTC deficiency
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
OTC deficiency is a urea cycle disorder that causes ammonia levels to rise, and it is hard to detect through screening. A screening trial was carried out for four years in Japan's Hyogo region. Babies with low citrulline levels in the blood were referred for further tests. OTC deficiency was found in one baby and CPS1 deficiency in another. Requesting a second blood sample reduced false alarms.
What does it mean for patients and families?
This is a small pilot study and may not catch all patients. If there are symptoms, it is necessary to see a doctor for an ammonia test.
Source
Scientific paper: A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan. International Journal of Neonatal Screening, 2026. DOI: 10.3390/ijns12020039 · PubMed 42346728
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: Ornithine transcarbamylase (OTC) deficiency
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.