Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

ABSTRACT:

Background

Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in the Indian population, due to lack of a thorough study of the clinical and molecular profile.

Results

We present data from two major metabolic centres in India, including 123 cases of various UCDs. The majority of them (72/123, 58%) presented in the neonatal period (before 30 days of age) with 88% on or before day 7 of life (classical presentation), and had a high mortality (64/72, 88%). Citrullinemia type 1 was the most common UCD, observed in 61/123 patients. Ornithine transcarbamylase (OTC) deficiency was the next most common, seen in 24 cases. Argininosucc

SUBMITTER: Bijarnia-Mahay S 

PROVIDER: S-EPMC6167905 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature