Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
Fil: Laróvere, Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.
| Main Authors: | , , , , , , , |
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| Format: | conferenceObject |
| Language: | eng |
| Published: |
2022
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| Online Access: | http://hdl.handle.net/11086/28160 |
| _version_ | 1801216701065330688 |
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| 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 |
| collection | Repositorio Digital Universitario |
| description | Fil: Laróvere, Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. |
| format | conferenceObject |
| id | rdu-unc.28160 |
| institution | Universidad Nacional de Cordoba |
| language | eng |
| publishDate | 2022 |
| record_format | dspace |
| spelling | rdu-unc.281602022-08-15T05:04:51Z Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients Laróvere, Laura Silvera Ruiz, Silene Arranz, José Angaroni, Celia Guelbert, Norberto Antonozzi, Sandra Bezard, Miriam Dodelson de kremer, Raquel Trastornos Innatos del Ciclo de la Urea Fil: Laróvere, Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Silvera Ruiz, Silene. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Arranz, José. Hospital Vall Dhebron. Laboratorio de Metabolopatía; España. Fil: Angaroni, Celia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Guelbert, Norberto. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Antonozzi, Sandra. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Bezard, Miriam. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Dodelson de kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. 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. Fil: Laróvere, Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Silvera Ruiz, Silene. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Arranz, José. Hospital Vall Dhebron. Laboratorio de Metabolopatía; España. Fil: Angaroni, Celia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Guelbert, Norberto. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Antonozzi, Sandra. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Bezard, Miriam. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Dodelson de kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina. 2022-08-12T13:08:18Z 2022-08-12T13:08:18Z 2013 conferenceObject 0141-8955 http://hdl.handle.net/11086/28160 eng Attribution-NonCommercial-ShareAlike 4.0 International https://creativecommons.org/licenses/by-nc-sa/4.0/ Impreso |
| 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 |
| title | 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_short | Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients |
| title_sort | urea cycle disorders clinical biochemical and genetic findings in agentinean patients |
| topic | Trastornos Innatos del Ciclo de la Urea |
| url | http://hdl.handle.net/11086/28160 |
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