Abstract

The primary purpose of this project is to determine the best method of managing women during pregnancy who have hyperphenylalaninemia (HPA) including: classical phenylketonuria (PKU) - blood phenylalanine concentrations of more than 20 mg/dl while on a normal diet; variant PKU - 10-20 mg/dl; or benign HPA - 4-10 mg/dl. Fetal morbidity, with subsequent problems in growth and development, associated with maternal PKU will be assessed in relation to maternal phenylalanine levels.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research and Development Contracts (N01)
Project #
N01HD023149-012
Application #
2798879
Study Section
Project Start
1992-05-01
Project End
1999-04-30
Budget Start
1998-05-01
Budget End
1999-04-30
Support Year
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115

  Publications

Hanley, William B (2008) Finding the fertile woman with phenylketonuria. Eur J Obstet Gynecol Reprod Biol 137:131-5
Levy, H L; Yu, J J; Waisbren, S E (2004) Maternal histidinaemia: pregnancies and offspring outcomes. J Inherit Metab Dis 27:197-204
Rouse, Bobbye; Azen, Colleen (2004) Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy. J Pediatr 144:235-9
Hanley, W B; Azen, C; Koch, R et al. (2004) Maternal Phenylketonuria Collaborative Study (MPKUCS)--the 'outliers'. J Inherit Metab Dis 27:711-23
Michals-Matalon, Kimberlee; Platt, Lawrence D; Acosta P, Phyllis et al. (2002) Nutrient intake and congenital heart defects in maternal phenylketonuria. Am J Obstet Gynecol 187:441-4
Levy, H L; Vargas, J E; Waisbren, S E et al. (2002) Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 25:299-314
Levy, H L; Guldberg, P; Guttler, F et al. (2001) Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. Pediatr Res 49:636-42
Kalsner, L R; Rohr, F J; Strauss, K A et al. (2001) Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids. J Pediatr 139:421-7
Kim, S Z; Kupke, K G; Ierardi-Curto, L et al. (2000) Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. J Inherit Metab Dis 23:791-804
Koch, R; Friedman, E; Azen, C et al. (2000) The International Collaborative Study of Maternal Phenylketonuria: status report 1998. Eur J Pediatr 159 Suppl 2:S156-60

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