The international study of pregnancy outcome in women with maternal phenylketonuria: Report of a 12-year study

American Journal of Obstetrics and Gynecology

Volumn 182, Issue 2, 2000, Pages 326-333

  Platt, Lawrence D ^a   Koch, Richard ^b   Hanley, William B ^c   Levy, Harvey L ^d   Matalon, Reuben ^e   Rouse, Bobbye ^f   Trefz, Fritz ^g   De la Cruz, Felix ^h   Güttler, Flemming ⁱ   Azen, Colleen ^b   Friedman, Eva Gross ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d Children's Hospital   (United States)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^f University of Texas Medical Branch School of Medicine   (United States)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

ⁱ John F Kennedy Institute   (Germany)

Author keywords

Congenital defects; Fetal development; Maternal phenylketonuria; Mental retardation

Indexed keywords

PHENYLALANINE;

ARTICLE; CHILD; CHILD DEVELOPMENT; COGNITIVE DEVELOPMENT; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; DIET RESTRICTION; FEMALE; FETUS DEVELOPMENT; FETUS OUTCOME; HUMAN; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; MATERNAL DISEASE; MENTAL DEFICIENCY; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0033997846     PISSN: 00029378     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9378(00)70219-5     Document Type: Article

References (16)

1. 1. Koch R, Friedman EG, Wenz E, Jew K, Crowley C, Donnell G. Maternal phenylketonuria. J Inherit Metab Dis 1986;9 Suppl 2:159-68.
2. 2. Lenke RR, Levy HL. Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies. N Engl J Med 1980; 303:1201-8.
3. 3. Kirkman HN. Projections of a rebound in frequency of mental retardation from phenylketonuria. Appl Res Ment Retard 1982;3:319-28.
4. 4. Koch R, Levy HL, Matalon R, Rouse B, Hanley W, Azen C. The North American Collaborative Study of Maternal Phenylketonuria: status report 1993. Am J Dis Child 1993;147:1224-30.
5. 5. Perry TL, Hansen S, Tischler B, Richards FM, Sokol M. Unrecognized adult phenylketonuria. N Engl J Med 1973;289:395-8.
6. 6. Fisch RO, Doeden D, Lansky LL, Anderson JA. Maternal phenylketonuria: detrimental effects on embryogenesis and fetal development. Am J Dis Child 1969;118:847-58.
7. 7. Drogari E, Beasley M, Smith I, Lloyd JK. Timing of strict diet in relation to fetal damage in maternal phenylketonuria: an international collaborative study by the MRC/DHSS Phenylketonuria Register. Lancet 1987;2:927-30.
8. 8. Smith I, Glossop J, Beasley M. Fetal damage due to maternal phenylketonuria: effects of dietary treatment and maternal phenylalanine concentrations around the time of conception (an interim report from the UK Phenylketonuria Register). J Inherit Metab Dis 1990;13:651-7.
9. 9. Güttler F, Lou H, Andresen J, Kok K, Mikkelsen I, Nielsen KB, et al. Cognitive development in offspring of untreated and preconceptionally treated maternal phenylketonuria. J Inherit Metab Dis 1990;13:665-71.
10. 10. Teubrinck MS, Stroud HW. Normal infant born to a mother with phenylketonuria. JAMA 1982;247:2139-40.
11. 11. Platt LD, Koch R, Azen C, Hanley WB, Levy HL, Matalon R, et al. Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first 6 years. Am J Obstet Gynecol 1992;166:1150-60.
12. 12. Rouse B, Azen C, Matalon R, Hanley W, de la Cruz F, Trefz F, et al. Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations and early neurological sequelae. Am J Med Genet 1997;69:89-95.
13. 13. Michals K, Acosta PB, Austin V, Castiglioni L, Rohr F, Wenz E, et al. Nutrition and reproduction outcome in maternal phenylketonuria. Eur J Pediatr 1996;155 Suppl 1:S165-8.
14. 14. Guldberg P, Levy HL, Hanley WB, Koch R, Matalon R, Rouse BM, et al. Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. Am J Hum Genet 1996;59:84-94.
15. 15. McDonald JD. The PKU mouse project: its history, potential and implications. Acta Paediatr Suppl 1994;407:122-3.
16. 16. McDonald JD, Dyer CA, Gailis L, Kirby ML. Cardiovascular defects among the progeny of mouse phenylketonuria females. Pediatr Res 1997;42:103-7.