Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/197367
Type: Artigo de periódico
Title: Genotype And Natural History In Unrelated Individuals With Phenylketonuria And Autistic Behavior.
Author: Steiner, Carlos Eduardo
Acosta, Angelina Xavier
Guerreiro, Marilisa Mantovani
Marques-de-Faria, Antonia Paula
Abstract: We 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.
Subject: Adult
Autistic Disorder
Child
Consanguinity
Diagnostic And Statistical Manual Of Mental Disorders
Female
Genotype
Homozygote
Humans
Male
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/17607414
Date Issue: 2007
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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