Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior
Autor(a) principal: | |
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Data de Publicação: | 2007 |
Outros Autores: | , , |
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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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 instname:Universidade Federal da Bahia (UFBA) instacron:UFBA |
instname_str |
Universidade Federal da Bahia (UFBA) |
instacron_str |
UFBA |
institution |
UFBA |
reponame_str |
Repositório Institucional da UFBA |
collection |
Repositório Institucional da UFBA |
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