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Arch Dis Child. 1980 August; 55(8): 634–637.
PMCID: PMC1627052

Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy.


During a screening programme of 10000 pregnant women by the Guthrie test, a previously unrecognised phenylketonuric woman was detected. A low phenylalanine diet introduced from the 16th week of gestation failed to prevent fetal abnormality and mental retardation. Maternal phenylketonuria requires earlier diagnosis than can be achieved at the initial antenatal clinic visit if its teratogenic effects are to be prevented.

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Selected References

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  • Frankenburg WK, Duncan BR, Coffelt RW, Koch R, Coldwell JG, Son CD. Maternal phenylketonuria: implications for growth and development. J Pediatr. 1968 Oct;73(4):560–570. [PubMed]
  • Gairdner D, Pearson J. A growth chart for premature and other infants. Arch Dis Child. 1971 Dec;46(250):783–787. [PMC free article] [PubMed]
  • Bovier-Lapierre M, Saint-Dizier C, Freycon F, David M, Dorche C, Jeune M. Deux enfants nés de mère phénylcétonurique. Echec d'un régime pauvre en phénylalanine institué pendant la deuxième grossesse. Pediatrie. 1974 Jan-Feb;29(1):51–72. [PubMed]
  • Bush RT, Dukes PC. Progeny, pregnancy and phenylketonuria. N Z Med J. 1975 Oct 8;82(549):226–229. [PubMed]
  • Smith I, Erdohazi M, Macartney FJ, Pincott JR, Wolff OH, Brenton DP, Biddle SA, Fairweather DV, Dobbing J. Fetal damage despite low-phenylalanine diet after conception in a phenylketonuric woman. Lancet. 1979 Jan 6;1(8106):17–19. [PubMed]
  • Farquhar JW. Baby of a phenylketonuric mother. Inferences drawn from a single case. Arch Dis Child. 1974 Mar;49(3):205–208. [PMC free article] [PubMed]

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