Maternal hyperphenylalaninemia fetal effects.
Thirty-four children of 11 mothers with untreated hyperphenylalaninemia had a pattern of malformation consisting of prenatal and postnatal growth retardation, microcephaly and central nervous system dysfunction, increased incidence of malformations, and a peculiar facial appearance. Maternal hyperphenylalaninemia appears to be teratogenic, with a variability related to the blood phenylalanine concentration.
D000293:Adolescent; D000328:Adult; D002648:Child; D000013:Congenital Abnormalities / Q000209:etiology*; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000209:etiology; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D008831:Microcephaly / Q000209:etiology; D010649:Phenylalanine / Q000097:blood*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood*; D013285:Strabismus / Q000209:etiology
D010649:Phenylalanine