Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Sunita Bijarnia MahayJohannes HäberleAnil B JalanRatna Dua PuriSudha KohliKetki KudalkarVéronique RüfenachtDeepti GuptaDeepshikha MauryaJyotsna VermaYosuke ShigematsuSeiji YamaguchiRenu SaxenaIshwar C VermaPublished in: Orphanet journal of rare diseases (2018)
We report the occurrence of UCDs in India and the spectrum that may be different from the rest of the world. Citrullinemia type 1 was the most common UCD observed in the cohort. Increasing awareness amongst clinicians will improve outcomes through early diagnosis and timely treatment. Genetic diagnosis in the proband will enable prenatal/pre-implantation diagnosis in subsequent pregnancies.