Congenital and neurological abnormalities in infants with phenylketonuria.
We reported the occurrence of congenital and neurological abnormalities in 150 children with phenylketonuria (PKU) age 1 year or older, who have been treated with a restricted phenylalanine diet, according to the protocol used in a nation-wide longitudinal collaborative study of children treated for PKU. The overall occurrence (9.3%) of congenital anomalies was not significantly different from that of a general population, except for an apparent increased incidence of pyloric stenosis. None of the subjects had a persistent major neurological defect.
D000015:Abnormalities, Multiple / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D009422:Nervous System Diseases / Q000151:congenital*; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000150:complications*; D011707:Pyloric Stenosis / Q000151:congenital; D014481:United States
D010649:Phenylalanine