Fetal damage despite low-phenylalanine diet after conception in a phenylketonuric woman.
A woman with phenylketonuria gave birth to an infant with a cardiac defect and microcephaly despite introduction of a low-phenylalanine diet 5 weeks after conception (3 weeks after the first missed period). In maternal phenylketonuria fetal damage leading to reduced brain growth and cardiac malformations probably occurs within a few weeks of conception.
D000015:Abnormalities, Multiple / Q000209:etiology* / Q000473:pathology; D001921:Brain / Q000473:pathology; D000013:Congenital Abnormalities / Q000517:prevention & control; D005260:Female; D006330:Heart Defects, Congenital / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000209:etiology* / Q000473:pathology; D010649:Phenylalanine / Q000008:administration & dosage*; D010661:Phenylketonurias / Q000178:diet therapy*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000178:diet therapy*; D011261:Pregnancy Trimester, First; D011295:Prenatal Care
D010649:Phenylalanine