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.

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
Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115
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
Rouse, B; Matalon, R; Koch, R et al. (2000) Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes. J Pediatr 136:57-61
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

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