Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients

Urea cycle disorders (UCD) encompass several enzyme deficiencies with a wide clinical spectrum from asymptomatic to severe, mostly with cerebral damage. Objective: to communicate the autochthonous experience in the recognition of UCD. The diagnosis protocol included phenotype compatibility, metabol...

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Autores principales: Laróvere, Laura, Silvera Ruiz, Silene, Arranz, José, Angaroni, Celia, Guelbert, Norberto, Antonozzi, Sandra, Bezard, Miriam, Dodelson de kremer, Raquel
Formato: conferenceObject
Lenguaje:Inglés
Publicado: 2022
Materias:
Trastornos Innatos del Ciclo de la Urea
Acceso en línea:http://hdl.handle.net/11086/28160
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba
id I10-R141-11086-28160
record_format dspace
institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-141
collection Repositorio Digital Universitario (UNC)
language Inglés
topic Trastornos Innatos del Ciclo de la Urea
spellingShingle Trastornos Innatos del Ciclo de la Urea
Laróvere, Laura
Silvera Ruiz, Silene
Arranz, José
Angaroni, Celia
Guelbert, Norberto
Antonozzi, Sandra
Bezard, Miriam
Dodelson de kremer, Raquel
Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
topic_facet Trastornos Innatos del Ciclo de la Urea
description Urea cycle disorders (UCD) encompass several enzyme deficiencies with a wide clinical spectrum from asymptomatic to severe, mostly with cerebral damage. Objective: to communicate the autochthonous experience in the recognition of UCD. The diagnosis protocol included phenotype compatibility, metabolites analysis by HPLC, and genetic analysis by PCR, restriction assays, sequencing and MLPA. We recognised: i) Ornithine transcarbamylase deficiency, 11 patients: 2 males with neonatal onset (OTC mutations: delExon2-10, c.533C>T), 4 males with late onset (c.216+1G>A, c.386G>A, c.622G>A, c.829C>T), 5 females (delExon2-10, c.533C>T, c.452T>G, c.540+1G>A); ii) Argininosuccinate synthetase deficiency, Citrullinemia type I (CTLN1), 16 patients from 10 unrelated families from San Luis Province, all showed the same ASS1 mutation: c.1168G>A/c.1168G>A and died during neonatal period. This change was studied on their relatives and 172 healthy volunteers. The calculated carrier frequency in that population was 4.1%, suggesting the incidence of CTLN1 to be 1:2,427; iii) Argininosuccinate lyase, 1 patient with biochemical diagnosis, died during neonatal period. Our experience remarks: a) a high morbi-mortality at least in our region, despite an early diagnosis and prompt treatment, b) OTC heterozygotes showed severe manifestations and mostly early onset, c) due the high CTLN1 incidence in a risk population, we recommend a preconception carrier screening.
format conferenceObject
author Laróvere, Laura
Silvera Ruiz, Silene
Arranz, José
Angaroni, Celia
Guelbert, Norberto
Antonozzi, Sandra
Bezard, Miriam
Dodelson de kremer, Raquel
author_facet Laróvere, Laura
Silvera Ruiz, Silene
Arranz, José
Angaroni, Celia
Guelbert, Norberto
Antonozzi, Sandra
Bezard, Miriam
Dodelson de kremer, Raquel
author_sort Laróvere, Laura
title Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
title_short Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
title_full Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
title_fullStr Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
title_full_unstemmed Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
title_sort urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
publishDate 2022
url http://hdl.handle.net/11086/28160
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