Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding

American Journal of Obstetrics and Gynecology

Volumn 180, Issue 4, 1999, Pages 986-994

  Hanley, William B ^a   Platt, Lawrence D ^b   Bachman, Ronald P ^b   Buist, Neil ^b   Geraghty, Michael T ^b   Isaacs, Janet ^b   O'Flynn, Margaret E ^b   Rhead, William J ^b   Seidlitz, Günter ^b   Tishler, Bluma ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b NONE

Author keywords

Congenital heart disease; Maternal phenylketonuria; Mental retardation; Microcephaly; Phenylketonuria; Prenatal screening

Indexed keywords

ADOLESCENT; ADULT; CASE FINDING; CLINICAL ARTICLE; CLINICAL PROTOCOL; CONFERENCE PAPER; CONGENITAL HEART DISEASE; EARLY DIAGNOSIS; FACE DYSMORPHIA; FEMALE; GENOTYPE; HIGH RISK PREGNANCY; HUMAN; INTELLIGENCE QUOTIENT; INTRAUTERINE GROWTH RETARDATION; MATERNAL CARE; MENTAL DEFICIENCY; MICROCEPHALY; PHENYLKETONURIA; PRENATAL CARE; PRENATAL SCREENING; PRIORITY JOURNAL;

EID: 0032937137     PISSN: 00029378     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9378(99)70671-X     Document Type: Conference Paper

References (25)

1. 1. Azen CG, Koch R, Friedman EG, Berlow S, Coldwell J, Krausc W, et al. Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 1991;145:35-9.
2. 2. Kirkman H. Projections of a rebound in frequency of mental retardation from phenylketonuria. Appl Res Ment Retard 1982;3:319-28.
3. 3. Lenke R, Levy HL. Maternal phenylketonuria and hyperphenyl-alaninemia. N Engl J Med 1980;303:1202-8.
4. 4. Rouse R, Lockhart L, Matalon R, Azen C, Koch R, Hanley WB, et al. Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations. J Inherit Metab Dis 1990;13:289-91.
5. 5. Koch R, Levy HL, Matalon R, Rouse B, Hanley WB, Trefz F, et al. The International Collaborative Study of Maternal Phenylketonuria status report 1994. Acta Paediatr Suppl 1994;407:111-9.
6. 6. Hanley WB, Koch R, Levy H, Matalon R, Rouse B, Azen C, et al. The North American Maternal PKU Collaborative Study, Developmental Assessment of the Offspring: preliminary report. Eur J Pediatr 1996;155 Suppl 1:S169-72.
7. 7. Hanley WB, Clarke JT, Schoonheyt WE. Undiagnosed phenylketonuria in adult women: a hidden public health problem. Can Med Assoc J 1990;143:513-6.
8. 8. Hanley WB. Prenatal testing for maternal phenylketonuria (MPKU). Int Pediatr 1994;9 Suppl 2:33-9.
9. 9. Bachman RP, Schoen EJ, Backstrom MV, Lee RF, Rodwell-Williams S, Jurecki EJ. Phenylalanine embryopathy in three siblings: implications of maternal diet therapy. Am J Dis Child 1993;147:22-3.
10. 10. Buist NR, Lis EW, Tuerck JM, Murphy WH. Maternal phenylketonuria [letter]. Lancet 1979;2:589.
11. 11. Machill VG, Seidlitz G, Grimm U, Knapp A. Zur Hauligkeit der Phenylketunurie mit normaler Intelligenz. Z Klin Med 1990;45:1821-3.
12. 12. Perry T, Hansen S, Tischler B, Richard F, Sokol M. Unrecognized adult phenylketonuria: implications for obstetrics and psychiatry. N Engl J Med 1973;289:395-8.
13. 13. Gungor N, Tokath A, Coskun T, Özgüc A, Özalp T. Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia. Eur J Pediatr 1996;3:257-8.
14. 14. Kleiman S, Vanagaite L, Bernstein J, Schwartz G, Brand N, Alitzur A, et al. Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote. J Med Genet 1993;30:284-8.
15. 15. Scriver CR, Kaufman S, Woo SL. The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill; 1989. p. 395-456.
16. 16. Weglage J, Ullrich K, Pietsch M, Fünders B, Zass R, Koch HG. Untreated non-phenylketonuric hyperphenylalaninemia: intellectual and neurological outcome. Eur J Pediatr 1996;155 Suppl 1:S26-8.
17. 17. Tiwary CM. Proposed guidelines for screening for metabolic and endocrine diseases of dependent neonates of the US Armed Forces: derived from a survey of state guidelines for neonatal screening of metabolic diseases. Clin Pediatr (Phila) 1987;26:349-54.
18. 18. Haworth JC, Miller JR, Scriver CR. Screening, counseling and treatment of hereditary metabolic disease: a survey of resources in Canada. Can Med Assoc J 1974;111:1147-53.
19. 19. Working Party of the Council of Europe to Study Hereditary Inborn Errors in Eight European Countries. Collective results of mass screening for inborn errors of metabolism in eight European countries. Acta Paediatr Scand 1973;62:413-6.
20. 20. Levy HL, Waisbren SE. Effect of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. N Engl J Med 1983;309:1269-74.
21. 21. Waisbren SE, Levy HL. Effects of untreated hyperphenylalaninemia on the fetus: further study of families identified by routine cord blood screening. J Pediatr 1990;116:926-9.
22. 22. Levy HL, Waisbren SE, Lobbregt D, Allred E, Schuler A, Trefz FK, et al. Maternal mild hyperphenylalaninemia: an international survey of offspring outcome. Lancet 1994;344:1589-94.
23. 23. Koch R, Hsai DYY, Woolf LI. Conference on sex ratio in phenylketonuria. J Pediatr 1971;78:157-9.
24. 24. Waisbren SE, Doherty LB, Baily IV, et al. The New England maternal PKU project: identification of at-risk women. Am J Public Health 1988;78:789-92.
25. 25. Harrison PF, Rosenfield A, editors. Contraceptive research and development: looking to the future. Washington: National Academy Press; 1996.