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

dc.creatorSteiner, CE
dc.creatorAcosta, AX
dc.creatorGuerreiro, MM
dc.creatorMarques-De-Faria, AP
dc.date2007
dc.dateJUN
dc.date2014-07-30T17:47:47Z
dc.date2015-11-26T17:47:42Z
dc.date2014-07-30T17:47:47Z
dc.date2015-11-26T17:47:42Z
dc.date.accessioned2018-03-29T00:30:26Z
dc.date.available2018-03-29T00:30:26Z
dc.identifierArquivos De Neuro-psiquiatria. Assoc Arquivos De Neuro- Psiquiatria, v. 65, n. 2A, n. 202, n. 205, 2007.
dc.identifier0004-282X
dc.identifierWOS:000247137800003
dc.identifier10.1590/S0004-282X2007000200003
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/67961
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/67961
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1288869
dc.descriptionWe 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.
dc.description65
dc.description2A
dc.description202
dc.description205
dc.languageen
dc.publisherAssoc Arquivos De Neuro- Psiquiatria
dc.publisherSao Paulo Sp
dc.publisherBrasil
dc.relationArquivos De Neuro-psiquiatria
dc.relationArq. Neuro-Psiquiatr.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectautism
dc.subjectnatural history
dc.subjectpervasive developmental disorders
dc.subjectphenylalanine hydroxilase
dc.subjectphenylketonuria
dc.subjectPhenylalanine-hydroxylase Deficiency
dc.subjectInfantile-autism
dc.subjectDisorders
dc.subjectMutations
dc.subjectSpectrum
dc.subjectPah
dc.titleGenotype and natural history in unrelated individuals with phenylketonuria and autistic behavior
dc.typeArtículos de revistas


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