Koch R, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Guttler F, Azen C, Friedman E, Platt L, de la Cruz F
Children's Hospital of Los Angeles, University of Southern California Los Angeles, California 90027, USA.
Mol Genet Metab. 2000 Sep-Oct;71(1-2):233-9. doi: 10.1006/mgme.2000.3038.
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 congenital heart disease. These results occurred chiefly in women with mean IQ scores of 83 associated with low socioeconomic status and decreased educational achievement. Another important factor associated with suboptimal control of blood phenylalanine levels during pregnancy was the fact that most pregnancies were not carefully planned and occurred in women off dietary treatment with phenylalanine-restricted products. These results indicate that greater effort must be developed to assist women with PKU in remaining on diet during their reproductive years. It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development.
母体苯丙酮尿症（PKU）综合征会导致后代出现多种先天性异常，通常包括小头畸形、宫内生长迟缓、畸形以及先天性心脏病。孕前采用低苯丙氨酸饮食治疗并将母体血液苯丙氨酸水平控制在推荐范围内的妊娠会生出正常后代。然而，在这项为期15年的研究中，几个重要因素导致27%的后代出现小头畸形，7%的后代患有严重先天性心脏病。这些结果主要发生在平均智商为83、社会经济地位低且教育程度低的女性中。与孕期血液苯丙氨酸水平控制不佳相关的另一个重要因素是，大多数妊娠没有经过精心计划，且发生在未食用低苯丙氨酸限制产品进行饮食治疗的女性身上。这些结果表明，必须付出更大努力来帮助患有PKU的女性在生育年龄期间坚持饮食。看来持续坚持饮食，使母体智力正常，对改善胎儿发育有重要作用。
