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Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations
Author(s) -
Rouse B.,
Lockhart L.,
Matalon R.,
Azen C.,
Koch R.,
Hanley W.,
Levy H.,
Cruz F.,
Friedman E.
Publication year - 1990
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/bf01799376
Subject(s) - microcephaly , phenylalanine , medicine , pregnancy , endocrinology , pediatrics , biology , genetics , amino acid
Conclusion It is clear from the preliminary data that major malformations, i.e. intrauterine growth retardation, microcephaly and cardiac defects, tend to decrease in frequency as the blood phenylalanine level drops, but not enough to suggest that phenylalanine levels of 600 µ mol/L are safe levels. The facial dysmorphic features may be used as a sensitive indicator that blood phenylalanine levels should be below 360 µ mol/L. It is hoped that at the end of the collaborative study more data will be available to suggest blood phenylalanine levels which will prevent the deleterious effects of maternal PKU syndrome.