Abstract
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with part...
Highlights
Ornithine transcarbamylase (OTC; EC 2.1.3.3) catalyzes the formation of citrulline and inorganic phosphate from carbamyl phosphate and ornithine in the urea cycle.[1]
The human OTC gene is located on the short arm of the X chromosome (Xp11.4; https://www.omim.org/entry/300461)
Bioinformatic analysis of mutations using in silico strategies is used in Ornithine transcarbamylase deficiency (OTCD) and other genetic diseases to predict severity
Summary
Ornithine transcarbamylase (OTC; EC 2.1.3.3) catalyzes the formation of citrulline and inorganic phosphate from carbamyl phosphate and ornithine in the urea cycle.[1] The human OTC gene is located on the short arm of the X chromosome (Xp11.4; https://www.omim.org/entry/300461). Mutations that block the enzyme’s catalytic action are invariably associated with acute neonatal hyperammonemia, while those that allow residual activity may manifest over a wide age range, from the neonatal period to late adulthood. Bioinformatic analysis of mutations using in silico strategies is used in OTCD and other genetic diseases to predict severity. We matched clinical data with molecular, biochemical, and bioinformatic analyses to perform a genotype–phenotype correlation analysis of OTC mutations found in patients with OTCD from Argentina diagnosed at a single center (CEMECO, Children’s Hospital of Cordoba)
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