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.

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Children's Hospital of Los Angeles
Los Angeles
United States
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Hanley, William B (2008) Finding the fertile woman with phenylketonuria. Eur J Obstet Gynecol Reprod Biol 137:131-5
Brumm, V L; Azen, C; Moats, R A et al. (2004) Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review. J Inherit Metab Dis 27:549-66
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
Waisbren, Susan E; Azen, Colleen (2003) Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics 112:1544-7
Lee, Philip J; Lilburn, Maggie; Baudin, Jenny (2003) Maternal phenylketonuria: experiences from the United Kingdom. Pediatrics 112:1553-6
Matalon, Reuben; Surendran, Sankar; Matalon, Kimberlee Michals et al. (2003) Future role of large neutral amino acids in transport of phenylalanine into the brain. Pediatrics 112:1570-4
Koch, Richard; Azen, Colleen; Friedman, Eva et al. (2003) Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study. Pediatrics 112:1519-22
Guttler, Flemming; Azen, Colleen; Guldberg, Per et al. (2003) Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Pediatrics 112:1530-3
Widaman, Keith F; Azen, Colleen (2003) Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study. Pediatrics 112:1537-43

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