Rohr F J, Doherty L B, Waisbren S E, Bailey I V, Ampola M G, Benacerraf B, Levy H L
J Pediatr. 1987 Mar;110(3):391-8. doi: 10.1016/s0022-3476(87)80500-0.
Four women with classic phenylketonuria (blood phenylalanine greater than 1200 mumol/L) were given a phenylalanine-restricted diet; three also received L-tyrosine supplements. Biochemical measures of nutrition were normal except for iron deficiency anemia, and in one woman folate deficiency. One pregnancy in which treatment began before conception and another treated from 8 weeks gestation, both with blood phenylalanine levels maintained at 120 to 730 mumol/L, resulted in normal newborn infants whose postnatal growth and development have also been normal. A third pregnancy, treated from 6 gestational weeks, was marked by poor dietary compliance until the middle of the second trimester; fetal microcephaly was identified by ultrasonography at 28 weeks but not at 21 weeks. The child has microcephaly and motor delay. The fourth pregnancy, not treated until the third trimester, produced a child with microcephaly, mental retardation, hyperactivity, and neurologic deficits. It is likely that fetal damage from maternal phenylketonuria can be largely and perhaps entirely prevented by dietary therapy, but therapy must begin before conception for the best chance of a normal infant.
对四名患有典型苯丙酮尿症（血苯丙氨酸大于1200 μmol/L）的女性给予低苯丙氨酸饮食；其中三名女性还补充了L-酪氨酸。除缺铁性贫血外，营养的生化指标正常，还有一名女性存在叶酸缺乏。一例在受孕前开始治疗，另一例在妊娠8周开始治疗，血苯丙氨酸水平均维持在120至730 μmol/L，均产下正常新生儿，其出生后的生长发育也正常。第三例妊娠在妊娠6周开始治疗，直到孕中期都存在饮食依从性差的情况；在28周时超声检查发现胎儿小头畸形，但21周时未发现。该患儿有小头畸形和运动发育迟缓。第四例妊娠直到孕晚期才开始治疗，产下一名患有小头畸形、智力迟钝、多动和神经功能缺损的患儿。母体苯丙酮尿症对胎儿的损害很可能可以通过饮食疗法在很大程度上甚至完全预防，但为了生出正常婴儿的最佳机会，治疗必须在受孕前开始。
