Bradburn N C, Wappner R S, Lemons J A, Meyer B A, Roberts R S
Am J Perinatol. 1985 Apr;2(2):138-41. doi: 10.1055/s-2007-999931.
Many young women who were diagnosed as having phenylketonuria (PKU) during routine neonatal screening and effectively treated during childhood are now of childbearing age. Recent reports suggest that maternal dietary therapy instituted before conception may improve the likelihood of a successful pregnancy and normal offspring. However, it is not known whether the intake of phenylalanine (phe) should be restricted during lactation. While phe levels in breast milk from women with PKU are markedly elevated, to our knowledge serum phe levels have not been measured in nursing newborn infants of PKU mothers. The present case report describes the pregnancy and early lactation of a mother with PKU, including serial measurements of serum phe levels in her offspring while being breast-fed.
许多在常规新生儿筛查中被诊断为患有苯丙酮尿症（PKU）且在儿童期得到有效治疗的年轻女性现在已到生育年龄。最近的报告表明，在受孕前开始的母体饮食疗法可能会提高成功怀孕和生出正常后代的可能性。然而，尚不清楚在哺乳期是否应限制苯丙氨酸（phe）的摄入量。虽然患有PKU的女性母乳中的phe水平明显升高，但据我们所知，尚未对PKU母亲哺乳的新生儿的血清phe水平进行测量。本病例报告描述了一位患有PKU的母亲的怀孕和早期哺乳期情况，包括对其母乳喂养的后代进行血清phe水平的系列测量。
