Maternal phenylketonuria.
A mother with phenylketonuria and hyperphenylalaninaemia of 960 mumol/L with four intellectually deficient offspring is described. In addition a mother with hyperphenylalaninaemia of 2100 mumol/L and two intellectually deficient microcephalic children is described. None of the affected children exhibited elevations of blood phenylalanine. In utero phenylalanine toxicity was considered a factor causing the handicaps.
Pullon
D H
DH
Waikato Hospital, Hamilton.
Macfarlane
S D
SD
Lyon
I C
IC
D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000097:blood / Q000209:etiology* / Q000652:urine; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000097:blood / Q000209:etiology / Q000652:urine; D007360:Intelligence; D008297:Male; D008831:Microcephaly / Q000097:blood / Q000209:etiology / Q000652:urine; D010649:Phenylalanine / Q000097:blood* / Q000652:urine; D010661:Phenylketonurias / Q000097:blood* / Q000652:urine; D011247:Pregnancy
D010649:Phenylalanine