Abstract
To avoid fetal damage in women with PKU, strict preconception and pregnancy control of blood phenylalanine concentrations (PHE) have been recommended (1). To find out if these recommendations prevented neurological damage we studied the neurodevelopmental outcome of 24 infants from 23 pregnancies in which strict dietary control was introduced prior to conception. 18 had reached 1 year. Measures of outcome were related to mean PHE, and to number of daya PHE exceeded 300 μmol/l in the first trimester. They included head circumference (OFC) and neurological examination at term and 1 year and developmental quotient (Griffiths GQ) at 1 year. The OFC standard deviation scores (SDS) at term and 1 year in infants of mothers with mean PHE ⋝ 300 (305-496) μmol/l were significantly smaller than those with mean PHE of <300 (139-281 ) μmol/l (p<0.05). Within the group with mean PHE <300 μmol/l, OFC SDS was lower in those whose PHE exceeded 300 μmol/l for more than 10 days (p<0.05). 17 of the 24 infants examined at term, and 13 of the 18 at 1 year, had abnormal neurological eigne. The mean GQ of these 18 infants was 109±13 and did not differ according to PHE. We conclude that a) mean PHE of <300 μmol/1 in the first trimester improves head growth especially when control is strict b) strict control at this recommended level did not prevent signs of neurological impairment.
1. MRC Working Party on PKU. Arch Dis Child 1993;68:426-427.
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Lorek, A., Baudin, J., Townsend, J. et al. FIRST TRIMESTER PHENYLKETONURIA (PKU) DIETARY CONTROL AND NEURODEVELOPMENTAL OUTCOME IN INFANTS. Pediatr Res 35, 282 (1994). https://doi.org/10.1203/00006450-199402000-00167
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DOI: https://doi.org/10.1203/00006450-199402000-00167