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Maternal phenylketonuria
D H Pullon1, S D Macfarlane, I C Lyon
1Waikato Hospital, Hamilton.
The New Zealand Medical Journal
|August 22, 1990
Abstract:
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.