Mutation spectrum and genotype-phenotype correlation in a cohort of Argentine patients with ornithine transcarbamylase deficiency: a single center experience

LARÓVERE LAURA ELENA; SILVERA RUIZ SM; ARRANZ-AMO JA; DODELSON DE KREMER R

Journal of Inborn Errors of Metabolism and Screening

SAGE Publishing

Año: 2018

2326-4098

-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycledisorder. Hemizygous males with complete deficiency manifest neonatal acutehyperammonemia, while those with partial deficiency have a late presentation. Thesymptomatology of heterozygotes depends on the X chromosome?s inactivation pattern.Hyperammonemic episodes can cause neurological damage and are potentially fatal.Here, we match clinical, biochemical, and molecular findings with bioinformaticsanalyses to report genotype-phenotype correlations in 14 Argentine OTCD patientsfrom 11 unrelated families: 4 hemizygotes with neonatal onset (complete OTC genedeletion, 533C>T, c.540+1G>A, c.697delG); 4 hemizygotes with late onset(c.216+1G>A, c.386G>A, c.622G>A, c.829C>T); and 6 symptomatic heterozygotes(complete OTC gene deletion, c.533C>T, c.452T>G, c.540+1G>A, dupE1-9/delE10).Three of these mutations were previously unreported: c.540+1G>A, c.69