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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 Verma
Published 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.
Keyphrases
  • pregnant women
  • genome wide
  • risk assessment
  • palliative care
  • dna methylation
  • gene expression