Abstract
The International Maternal Phenylketonuria (PKU) Collaborative Study commenced in 1984 to evaluate the efficacy of the low-phenylalanine diet in reducing the morbidity associated with maternal PKU syndrome. Four hundred and sixty eight (468) pregnancies resulted in 331 live births, 3 stillbirths, 61 spontaneous abortions, 2 ectopic pregnancies and 71 elective terminations. Since its inception, the study has steadily progressed toward its goal of diet initiation preconception or early in pregnancy. By 1994, 51% of the sample began the diet preconceptionally, with an additional 41% doing so by 8 weeks gestation. The number of adolescent pregnancies has decreased from 31% to 9%, college attendance has increased from 5% to 16%, number of women in the lowest socioeconomic classes has decreased from 95% to 59% and average IQ has increased from 78 to 88. The organization of the network of 130 referral centers and clinics within the U.S.A., Canada and Germany and the objectives of the scientific research investigation have served to provide a derived benefit of outreach, education, reproductive counseling and early diet intervention in a large cohort of PKU women.
Similar content being viewed by others
Abbreviations
- HPA :
-
hyperphenylalaninemia
- MPKUCS :
-
International Maternal PKU Collaborative Study
- Phe :
-
phenylalanine
- PKU :
-
phenylketonuria
- PKUCS :
-
United States PKU Collaborative Study
References
Bickel H, Gerrard J, Hicmans EM (1953) Influence of phenylalanine intake on phenylketonuria. Lancet II: 812
Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32:338
Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies. N Engl J Med 303: 1201–1208
Koch R, Levy HL, Matalón R, Rouse B, Hanley W, Azen C (1993) The north american collaborative study of maternal phenylketonuria Am J Dis Child 147:1224–1230
Platt L, Koch R, Azen C, Hartley WB, Levy HL, Matalón R, Rouse B, de la Cruz F, Walla CA (1992) Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first 6 years. Am J Obstet Gynecol 166: 1150–1162
Williamson ML, Dobson JC, Koch R (1977) Collaborative study of children treated for phenylketonuria: study design. Pediatrics 60:161–167
Azen C, Koch R, Friedman EG (1996) The United States PKU collaborative study. Eur J Pediatr (this issue)
Michals-Matalon K, Acosta PB, Austin V, Castiglioni L, Wenz E, Azen C (1996) Nutrition and reproductive outcome in maternal PKU. Eur J Pediatr (this issue)
Kirkman HN (1982) Projections of a rebound in frequency in mental retardation from phenylketonuria. Appi Res Ment Retard 3:318–328
The American Public Health Association (1990) Preventing birth defects from maternal phenylketonuria. Am J Public Health 80:228. Policy statement 8907
Committee on Genetics, American Academy of Pediatrics (1991) Maternal phenylketonuria. Pediatrics 88: 1284–1285
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Friedman, E.G., Koch, R., Azen, C. et al. The international collaborative study on maternal phenylketonuria: organization, study design and description of the sample. Eur J Pediatr 155 (Suppl 1), S158–S161 (1996). https://doi.org/10.1007/PL00014236
Issue Date:
DOI: https://doi.org/10.1007/PL00014236