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

Detalhes bibliográficos
Autor(a) principal: Carvalho, Fábia
Data de Publicação: 2021
Outros Autores: Campos, Teresa, Reis, Joana, 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: http://hdl.handle.net/10400.16/2503
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 precocehomocystinurianeonatal screeningNewborn ScreeningSinus ThrombosisIntroduction: 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.Centro Hospitalar Universitário do PortoRepositório Científico do Centro Hospitalar Universitário de Santo AntónioCarvalho, FábiaCampos, TeresaReis, JoanaPortela, MarianaVasconcelos, CarlaFerreira, CarlaCerqueira, ArnaldoOliveira, ÂngelaVilarinho, LauraLeão-Teles, ElisaRodrigues, Esmeralda2021-10-04T09:32:30Z2021-032021-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2503engCarvalho F, Campos T, Reis J, Portela M, Vasconcelos C, Ferreira C, Cerqueira A, Oliveira A, Vilarinho L, Leão-Teles E, Rodrigues E, Nascer e Crescer - Birth and Growth Medical Journal 2021;30(1): 44-47. doi:10.25753/BirthGrowthMJ.v30.i1.187532183-941710.25753/BirthGrowthMJ.v30.i1.18753info: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:RCAAP2023-10-20T11:00:56Zoai:repositorio.chporto.pt:10400.16/2503Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:42.976400Repositório 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
Carvalho, Fábia
homocystinuria
neonatal screening
Newborn Screening
Sinus Thrombosis
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 Carvalho, Fábia
author_facet Carvalho, Fábia
Campos, Teresa
Reis, Joana
Portela, Mariana
Vasconcelos, Carla
Ferreira, Carla
Cerqueira, Arnaldo
Oliveira, Ângela
Vilarinho, Laura
Leão-Teles, Elisa
Rodrigues, Esmeralda
author_role author
author2 Campos, Teresa
Reis, Joana
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.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
dc.contributor.author.fl_str_mv Carvalho, Fábia
Campos, Teresa
Reis, Joana
Portela, Mariana
Vasconcelos, Carla
Ferreira, Carla
Cerqueira, Arnaldo
Oliveira, Ângela
Vilarinho, Laura
Leão-Teles, Elisa
Rodrigues, Esmeralda
dc.subject.por.fl_str_mv homocystinuria
neonatal screening
Newborn Screening
Sinus Thrombosis
topic homocystinuria
neonatal screening
Newborn Screening
Sinus Thrombosis
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 2021-10-04T09:32:30Z
2021-03
2021-03-01T00:00:00Z
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 http://hdl.handle.net/10400.16/2503
url http://hdl.handle.net/10400.16/2503
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Carvalho F, Campos T, Reis J, Portela M, Vasconcelos C, Ferreira C, Cerqueira A, Oliveira A, Vilarinho L, Leão-Teles E, Rodrigues E, Nascer e Crescer - Birth and Growth Medical Journal 2021;30(1): 44-47. doi:10.25753/BirthGrowthMJ.v30.i1.18753
2183-9417
10.25753/BirthGrowthMJ.v30.i1.18753
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
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
repository.mail.fl_str_mv
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