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Treatment Outcome of Maternal Phenylketonuria
Author(s) -
Koch Richard,
Wenz Elizabeth,
Bauman Cindy,
Friedman Eva G.,
Azen Colleen,
Fishler Karol,
Heiter William
Publication year - 1988
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1988.tb02530.x
Subject(s) - medicine , hyperphenylalaninemia , pregnancy , phenylalanine , pediatrics , referral , phenylketonurias , obstetrics , family medicine , biochemistry , chemistry , amino acid , biology , genetics
Our experience to date with 40 pregnancies in 13 women with hyperphenylalaninemia indicates that to prevent mental retardation in their children, maternal phenylalanine levels of 120–600 umol/L are needed, in addition to a newborn screening program. While treatment results to date are preliminary, it appears that the phenylalanine‐restricted diet is of value and should be instituted as soon as pregnancy is planned by phenylketonuric women. There is much to be learned by study of these women and referral to a collaborating center in the National Maternal PKU Collaborative Study is recommended.