[Maternal phenylketonuria].
We report about the child of a mother with phenylketonuria, which is not suffering from PKU, but is microcephalic and mentally retarded. This retardation is probably a sequel of an intrauterine Hyper-Phenylalanine-status. It is supposed that an intrauterine damage of the offspring even in cases with low Phenylalanine-levels of the mother is possible.
D002648:Child; D002855:Chromatography, Thin Layer; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008431:Maternal-Fetal Exchange; D008831:Microcephaly / Q000235:genetics*; D010649:Phenylalanine / Q000009:adverse effects* / Q000097:blood; D010661:Phenylketonurias / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood*; D014443:Tyrosine / Q000097:blood / Q000652:urine
D014443:Tyrosine; D010649:Phenylalanine
Maternale Phenylketonurie.