title: Four cases of hyperphenylalaninaemia: studies during pregnancy and of the offspring produced.
abstract: Four cases of variant hyperphenylalaninaemia during pregnancy are presented. Babies born to mothers with blood phenylalanine concentrations of 4-8 mg/dl were normal and did not exhibit significant microcephaly, although one did have a major congenital anomaly (exstrophy of the bladder). The mother with blood phenylalanine concentrations of 6-12 mg/dl during pregnancy delivered three of four infants with mild microcephaly but normal intellectual function. The data suggest that phenylalanine concentrations of 4-8 mg/dl are reasonable and desirable during pregnancy in hyperphenylalaninaemic women. Furthermore, the data do not support or refute the justification hypothesis of Bessman et al.
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000503:physiopathology*; D004032:Diet; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008875:Middle Aged; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000378:metabolism; D011247:Pregnancy; D011248:Pregnancy Complications / Q000378:metabolism / Q000503:physiopathology*; D011506:Proteins / Q000378:metabolism; D013997:Time Factors
chemical_list: D011506:Proteins; D010649:Phenylalanine