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Maternal phenylketonuria
Author(s) -
Koch R.,
Gross Friedman E.,
Wenz E.,
Jew K.,
Crowley C.,
Donnell G.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799700
Subject(s) - offspring , microcephaly , phenylalanine , medicine , pediatrics , endocrinology , pregnancy , biology , genetics , amino acid
Pregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 µmol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 and 1200 µmol/L also have an increased risk to their offspring. To study this problem further, the National Institute of Child Health and Human Development has established a collaborative study for 7 years to elucidate a proper treatment programme for these women.