Maternal phenylketonuria: an international study
R Koch, W Hanley, H Levy, R Matalon, B Rouse… - Molecular Genetics and …, 2000 - Elsevier
Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the
offspring, usually consisting of microcephaly, intrauterine growth retardation,
dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a
phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the
recommended range result in normal offspring. However, in this 15-year study, several
significant factors resulted in microcephaly in 27% of the offspring, and 7% exhibited serious …
offspring, usually consisting of microcephaly, intrauterine growth retardation,
dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a
phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the
recommended range result in normal offspring. However, in this 15-year study, several
significant factors resulted in microcephaly in 27% of the offspring, and 7% exhibited serious …