MATERNAL PHENYLKETONURIA AND HYPERPHENYLALANINEMIA - AN INTERNATIONAL SURVEY OF THE OUTCOME OF UNTREATED AND TREATED PREGNANCIES
MATERNAL PHENYLKETONURIA AND HYPERPHENYLALANINEMIA - AN INTERNATIONAL SURVEY OF THE OUTCOME OF UNTREATED AND TREATED PREGNANCIES
复制标题
DOI：
10.1056/nejm198011203032104
复制
发表时间：
1980-01-01
影响因子：
158.5
通讯作者：
LEVY, HL
中科院分区：
文献类型：
--
作者：
LENKE, RR;LEVY, HL
Since many women with phenylketonuria (PKU) will have children of their own, the effect of maternal PKU and hyperphenylalaninemia on the offspring of such women was studied. The literature on this subject was reviewed and additional unpublished data was obtained through an international survey. Data were collected on 524 pregnancies in 155 women; in 34 pregnancies a low-phenylalanine diet was begun after or shortly before pregnancy was established. Among untreated pregnancies, the frequencies of mental retardation, microcephaly and congenital heart disease were greatly increased over those in the normal population, and these increases correlated with the mother''s blood levels of phenylalanine. Of mothers with blood phenylalanine concentrations of 20 mg/dl or higher, 95% had at least 1 mentally retarded child. Bias introduced by case-finding methods cannot explain these results. It is unclear whether dietary treatment begun after conception is helpful, but treatment begun before conception should be evaluated.
