Suspecting classical homocystinuria in an adolescent born before the newborn screening program

Detalhes bibliográficos
Autor(a) principal: de Carvalho, Fábia Ginja
Data de Publicação: 2021
Outros Autores: Campos, Teresa, dos Reis, Joana Soares, Portela, Mariana, Vasconcelos, Carla, Ferreira, Carla, Cerqueira, Arnaldo, Oliveira, Ângela, Vilarinho, Laura, Leão-Teles, Elisa, Rodrigues, Esmeralda
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://doi.org/10.25753/BirthGrowthMJ.v30.i1.18753
Resumo: Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study. Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism. Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.
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spelling Suspecting classical homocystinuria in an adolescent born before the newborn screening programSuspeita de homocistinúria clássica numa adolescente nascida antes do rastreio neonatal precoceCase ReportsIntroduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study. Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism. Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.Introdução: A homocistinúria clássica (HCU) é uma doença autossómica recessiva caracterizada por um défice na enzima cistationina beta-sintase, com probabilidade de ocorrência de complicações vasculares associadas. É apresentado o caso de uma adolescente diagnosticada com HCU no decorrer do estudo etiológico de trombose dos seios venosos (TSV). Descrição do caso: Uma adolescente de 14 anos apresentou um resultado de teste de trombofilia sugestivo de HCU durante o estudo de TSV. A doente foi orientada para uma Unidade de Doenças Hereditárias do Metabolismo, onde iniciou suplementação com piridoxina, ácido fólico, vitamina B12, betaína e cisteína e foi aconselhada a restringir proteínas naturais e metionina na dieta. O estudo genético revelou uma mutação homozigótica do gene CBS (c.572C> T (p.T191M) e o polimorfismo c.699C> T (p.Y233Y). Discussão: Os autores salientam a importância de considerar a HCU no estudo etiológico da trombofilia, principalmente em adolescentes nascidos antes de 2004 (ano de inclusão da HCU no rastreio neonatal), uma vez que se trata de uma doença tratável e o tratamento é capaz de prevenir as principais causas de morbimortalidade associadas.Centro Hospitalar Universitário do Porto2021-04-06T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v30.i1.18753eng2183-9417de Carvalho, Fábia GinjaCampos, Teresados Reis, Joana SoaresPortela, MarianaVasconcelos, CarlaFerreira, CarlaCerqueira, ArnaldoOliveira, ÂngelaVilarinho, LauraLeão-Teles, ElisaRodrigues, Esmeraldainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T14:55:36Zoai:ojs.revistas.rcaap.pt:article/18753Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:56:30.529463Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Suspecting classical homocystinuria in an adolescent born before the newborn screening program
Suspeita de homocistinúria clássica numa adolescente nascida antes do rastreio neonatal precoce
title Suspecting classical homocystinuria in an adolescent born before the newborn screening program
spellingShingle Suspecting classical homocystinuria in an adolescent born before the newborn screening program
de Carvalho, Fábia Ginja
Case Reports
title_short Suspecting classical homocystinuria in an adolescent born before the newborn screening program
title_full Suspecting classical homocystinuria in an adolescent born before the newborn screening program
title_fullStr Suspecting classical homocystinuria in an adolescent born before the newborn screening program
title_full_unstemmed Suspecting classical homocystinuria in an adolescent born before the newborn screening program
title_sort Suspecting classical homocystinuria in an adolescent born before the newborn screening program
author de Carvalho, Fábia Ginja
author_facet de Carvalho, Fábia Ginja
Campos, Teresa
dos Reis, Joana Soares
Portela, Mariana
Vasconcelos, Carla
Ferreira, Carla
Cerqueira, Arnaldo
Oliveira, Ângela
Vilarinho, Laura
Leão-Teles, Elisa
Rodrigues, Esmeralda
author_role author
author2 Campos, Teresa
dos Reis, Joana Soares
Portela, Mariana
Vasconcelos, Carla
Ferreira, Carla
Cerqueira, Arnaldo
Oliveira, Ângela
Vilarinho, Laura
Leão-Teles, Elisa
Rodrigues, Esmeralda
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv de Carvalho, Fábia Ginja
Campos, Teresa
dos Reis, Joana Soares
Portela, Mariana
Vasconcelos, Carla
Ferreira, Carla
Cerqueira, Arnaldo
Oliveira, Ângela
Vilarinho, Laura
Leão-Teles, Elisa
Rodrigues, Esmeralda
dc.subject.por.fl_str_mv Case Reports
topic Case Reports
description Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study. Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism. Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.
publishDate 2021
dc.date.none.fl_str_mv 2021-04-06T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.25753/BirthGrowthMJ.v30.i1.18753
url https://doi.org/10.25753/BirthGrowthMJ.v30.i1.18753
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2183-9417
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Centro Hospitalar Universitário do Porto
publisher.none.fl_str_mv Centro Hospitalar Universitário do Porto
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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