Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies
Author(s) -
Babette W Prick,
Wim C.J. Hop,
Johannes J. Duvekot
Publication year - 2011
Publication title -
american journal of clinical nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.608
H-Index - 336
eISSN - 1938-3207
pISSN - 0002-9165
DOI - 10.3945/ajcn.110.009456
Subject(s) - hyperphenylalaninemia , medicine , pregnancy , microcephaly , offspring , obstetrics , pediatrics , small for gestational age , gestational age , phenylalanine , biology , amino acid , chemistry , genetics , biochemistry
Untreated maternal phenylketonuria or hyperphenylalaninemia may result in nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability, microcephaly, and congenital heart disease (CHD). Dietary treatment to control phenylalanine concentrations can prevent these sequelae.
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