Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior Genótipo e história natural em indivíduos não aparentados com fenilcetonúria e comportamento autístico

Genotype and natural history in unrelated individual with phenylketonuria and autistic behavior Genótipo e história natural em indivíduos não aparentados com fenilcetonúria e comportamento autístico

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....

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Bibliographic Details
Main Authors: Carlos Eduardo Steiner, Angelina Xavier Acosta, Marilisa Mantovani Guerreiro, Antonia Paula Marques-de-Faria
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO) 2007-06-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
autismo
história natural
distúrbios invasivos do desenvolvimento
hidroxilase de fenilalanina
fenilcetonúria
autism
natural history
pervasive developmental disorders
phenylalanine hydroxilase
phenylketonuria
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000200003

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000200003

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