A Chinese classic phenylketonuria manifested as autism.
A 12-year-old Chinese boy had a diagnosis of infantile autism at infancy that was finally confirmed as classic phenylketonuria at adolescence. This treatable inborn metabolic disease should be investigated in cases of apparent autism, especially where mass neonatal screening of inborn metabolic diseases has not been established.
Chen
C H
CH
Department of Psychiatry, Veterans' General Hospital, Taipei, Taiwan, Republic of China.
Hsiao
K J
KJ
D001321:Autistic Disorder / Q000235:genetics* / Q000523:psychology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003431:Cross-Cultural Comparison; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010661:Phenylketonurias / Q000235:genetics* / Q000523:psychology; D013624:Taiwan; D014754:Violence