Skip to main content
PMC home page
American Journal of Public Health logoLink to American Journal of Public Health
. 1988 Jul;78(7):789–792. doi: 10.2105/ajph.78.7.789

The New England Maternal PKU Project: identification of at-risk women.

S E Waisbren 1, L B Doherty 1, I V Bailey 1, F J Rohr 1, H L Levy 1
PMCID: PMC1350334  PMID: 3381953

Abstract

Young women with phenylketonuria (PKU) are at risk for bearing children with mental retardation, microcephaly, heart defects, and low birthweight. These effects may be prevented if a low phenylalanine diet is maintained prior to and throughout pregnancy. This report describes the procedures of the New England Regional Maternal PKU Project for identifying and locating this population of at-risk women. Newborn screening records, routine umbilical cord blood screening, and PKU Clinic records provided most of the identifying information. We identified 235 women with hyperphenylalaninemia, ages 12 to 44 years. Of these, 183 had PKU or atypical PKU while 52 had non-PKU mild hyperphenylalaninemia. The 235 women represent 88 per cent of the expected number of women with hyperphenylalaninemia in New England. We identified more than the expected number of those with PKU but only 57 per cent of the expected number with mild hyperphenylalaninemia. Developing a national registry, as well as screening women who utilize birth control clinics or prenatal clinics, may be helpful. Implementing routine umbilical cord blood screening programs may be beneficial in efforts to identify women with hyperphenylalaninemia who have had a child and may want more children in the future.

Full text

PDF
789

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Buist N. R., Lis E. W., Tuerck J. M., Murphey W. H. Maternal phenylketonuria. Lancet. 1979 Sep 15;2(8142):589–589. doi: 10.1016/s0140-6736(79)91648-9. [DOI] [PubMed] [Google Scholar]
  2. Buist N. R., Tuerck J., Lis E., Penn R. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. N Engl J Med. 1984 Jul 5;311(1):52–53. doi: 10.1056/NEJM198407053110112. [DOI] [PubMed] [Google Scholar]
  3. Cartier L., Clow C. L., Lippman-Hand A., Morissette J., Scriver C. R. Prevention of mental retardation in offspring of hyperphenylalaninemic mothers. Am J Public Health. 1982 Dec;72(12):1386–1390. doi: 10.2105/ajph.72.12.1386. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Drogari E., Smith I., Beasley M., Lloyd J. K. Timing of strict diet in relation to fetal damage in maternal phenylketonuria. An international collaborative study by the MRC/DHSS Phenylketonuria Register. Lancet. 1987 Oct 24;2(8565):927–930. doi: 10.1016/s0140-6736(87)91418-8. [DOI] [PubMed] [Google Scholar]
  5. Friedman J. M., Smith J. P., Lerner B. N., Helgeson J. S., Howard-Peebles P. N., Mize C. E., Mize S. G., Singleton W. L., Smith M. E. ReCAP: the Registry of Cytogenetic Abnormalities and Phenylketonuria. Am J Med Genet. 1987 Jun;27(2):325–336. doi: 10.1002/ajmg.1320270211. [DOI] [PubMed] [Google Scholar]
  6. Kaufman S. Hyperphenylalaninaemia caused by defects in biopterin metabolism. J Inherit Metab Dis. 1985;8 (Suppl 1):20–27. doi: 10.1007/BF01800655. [DOI] [PubMed] [Google Scholar]
  7. Kirkman H. N., Jr, Hicks R. E. More on untreated maternal hyperphenylalaninemia. N Engl J Med. 1984 Oct 25;311(17):1125–1126. doi: 10.1056/NEJM198410253111716. [DOI] [PubMed] [Google Scholar]
  8. Ledley F. D., Levy H. L., Woo S. L. Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. N Engl J Med. 1986 May 15;314(20):1276–1280. doi: 10.1056/NEJM198605153142002. [DOI] [PubMed] [Google Scholar]
  9. Lenke R. R., Levy H. L. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med. 1980 Nov 20;303(21):1202–1208. doi: 10.1056/NEJM198011203032104. [DOI] [PubMed] [Google Scholar]
  10. Lenke R. R., Levy H. L. Maternal phenylketonuria--results of dietary therapy. Am J Obstet Gynecol. 1982 Mar 1;142(5):548–553. doi: 10.1016/0002-9378(82)90759-1. [DOI] [PubMed] [Google Scholar]
  11. Levy H. L. Maternal PKU: control of an emerging problem. Am J Public Health. 1982 Dec;72(12):1320–1321. doi: 10.2105/ajph.72.12.1320. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Levy H. L., Waisbren S. E. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. N Engl J Med. 1983 Nov 24;309(21):1269–1274. doi: 10.1056/NEJM198311243092101. [DOI] [PubMed] [Google Scholar]
  13. Meryash D. L., Levy H. L., Guthrie R., Warner R., Bloom S., Carr J. R. Prospective study of early neonatal screening for phenylketonuria. N Engl J Med. 1981 Jan 29;304(5):294–296. doi: 10.1056/NEJM198101293040510. [DOI] [PubMed] [Google Scholar]
  14. PARTINGTON M. W. Observations on phenylketonuria in Ontario. Can Med Assoc J. 1961 May 6;84:985–991. [PMC free article] [PubMed] [Google Scholar]
  15. Rohr F. J., Doherty L. B., Waisbren S. E., Bailey I. V., Ampola M. G., Benacerraf B., Levy H. L. New England Maternal PKU Project: prospective study of untreated and treated pregnancies and their outcomes. J Pediatr. 1987 Mar;110(3):391–398. doi: 10.1016/s0022-3476(87)80500-0. [DOI] [PubMed] [Google Scholar]
  16. Schuett V. E., Gurda R. F., Brown E. S. Diet discontinuation policies and practices of PKU clinics in the United States. Am J Public Health. 1980 May;70(5):498–503. doi: 10.2105/ajph.70.5.498. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Waisbren S. E., Schnell R., Levy H. L. Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. J Pediatr. 1984 Dec;105(6):955–958. doi: 10.1016/s0022-3476(84)80088-8. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Public Health are provided here courtesy of American Public Health Association

RESOURCES