title: Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior.
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.
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil. steiner@fcm.unicamp.br
authors.forename: Carlos Eduardo
authors.initials: CE
authors.lastname: Steiner
authors.forename: Angelina Xavier
authors.initials: AX
authors.lastname: Acosta
authors.forename: Marilisa Mantovani
authors.initials: MM
authors.lastname: Guerreiro
authors.forename: Antonia Paula
authors.initials: AP
authors.lastname: Marques-de-Faria
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D039721:Diagnostic and Statistical Manual of Mental Disorders; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase