Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior

Detalhes bibliográficos
Autor(a) principal: Steiner, Carlos Eduardo
Data de Publicação: 2007
Outros Autores: Acosta, Angelina Xavier, Guerreiro, Marilisa Mantovani, Faria, Antonia Paula Marques de
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/5841
Resumo: p.202-205
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spelling Steiner, Carlos EduardoAcosta, Angelina XavierGuerreiro, Marilisa MantovaniFaria, Antonia Paula Marques deSteiner, Carlos EduardoAcosta, Angelina XavierGuerreiro, Marilisa MantovaniFaria, Antonia Paula Marques de2012-05-11T14:13:10Z2012-05-11T14:13:10Z2007-060004-282Xhttp://www.repositorio.ufba.br/ri/handle/ri/5841v. 65, n. 2-Ap.202-205We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with absent development of verbal language and autistic symptoms in all three patients, whereas variable neurological signs such as seizures, spasticity, ataxia, aggressivity, and hyperactivity were individually found. Homozygosity for the IVS10nt11g/a (IVS10nt546) was found in all. This is the first report of molecular findings in subjects with PKU also presenting with autistic features. The authors discuss if this mutation is particularly involved in the association of autistic symptoms in untreated PKU individuals.Submitted by Texeira Ana (atanateixeira@gmail.com) on 2012-05-11T14:13:10Z No. of bitstreams: 1 Steiner, Carlos Eduardo.pdf: 182944 bytes, checksum: b6dbe648e15acd150e4bcbdf04b6a036 (MD5)Made available in DSpace on 2012-05-11T14:13:10Z (GMT). No. of bitstreams: 1 Steiner, Carlos Eduardo.pdf: 182944 bytes, checksum: b6dbe648e15acd150e4bcbdf04b6a036 (MD5) Previous issue date: 2007-06São PauloAssociação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Langehttp://dx.doi.org/10.1590/S0004-282X2007000200003reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAAutismNatural historyPervasive developmental disordersPhenylalanine hydroxilasePhenylketonuriaGenotype and natural history in unrelated individual with phenylketonuria and autistic behaviorArq Neuropsiquiatrinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleenginfo:eu-repo/semantics/openAccessORIGINALSteiner, Carlos Eduardo.pdfSteiner, Carlos Eduardo.pdfapplication/pdf182944https://repositorio.ufba.br/bitstream/ri/5841/1/Steiner%2c%20Carlos%20Eduardo.pdfb6dbe648e15acd150e4bcbdf04b6a036MD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/5841/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXTSteiner, Carlos Eduardo.pdf.txtSteiner, Carlos Eduardo.pdf.txtExtracted texttext/plain24416https://repositorio.ufba.br/bitstream/ri/5841/3/Steiner%2c%20Carlos%20Eduardo.pdf.txt7c93f867484f4fe6b244206f87fef869MD53ri/58412022-07-05 14:03:21.871oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:21Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
dc.title.alternative.pt_BR.fl_str_mv Arq Neuropsiquiatr
title Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
spellingShingle Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
Steiner, Carlos Eduardo
Autism
Natural history
Pervasive developmental disorders
Phenylalanine hydroxilase
Phenylketonuria
title_short Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
title_full Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
title_fullStr Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
title_full_unstemmed Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
title_sort Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
author Steiner, Carlos Eduardo
author_facet Steiner, Carlos Eduardo
Acosta, Angelina Xavier
Guerreiro, Marilisa Mantovani
Faria, Antonia Paula Marques de
author_role author
author2 Acosta, Angelina Xavier
Guerreiro, Marilisa Mantovani
Faria, Antonia Paula Marques de
author2_role author
author
author
dc.contributor.author.fl_str_mv Steiner, Carlos Eduardo
Acosta, Angelina Xavier
Guerreiro, Marilisa Mantovani
Faria, Antonia Paula Marques de
Steiner, Carlos Eduardo
Acosta, Angelina Xavier
Guerreiro, Marilisa Mantovani
Faria, Antonia Paula Marques de
dc.subject.por.fl_str_mv Autism
Natural history
Pervasive developmental disorders
Phenylalanine hydroxilase
Phenylketonuria
topic Autism
Natural history
Pervasive developmental disorders
Phenylalanine hydroxilase
Phenylketonuria
description p.202-205
publishDate 2007
dc.date.issued.fl_str_mv 2007-06
dc.date.accessioned.fl_str_mv 2012-05-11T14:13:10Z
dc.date.available.fl_str_mv 2012-05-11T14:13:10Z
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://www.repositorio.ufba.br/ri/handle/ri/5841
dc.identifier.issn.none.fl_str_mv 0004-282X
dc.identifier.number.pt_BR.fl_str_mv v. 65, n. 2-A
identifier_str_mv 0004-282X
v. 65, n. 2-A
url http://www.repositorio.ufba.br/ri/handle/ri/5841
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Associação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange
publisher.none.fl_str_mv Associação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1590/S0004-282X2007000200003
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
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