Jardim L B, Palma-Dias R, Silva L C, Ashton-Prolla P, Giugliani R
Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Acta Paediatr. 1996 Aug;85(8):943-6. doi: 10.1111/j.1651-2227.1996.tb14191.x.
We attempted to evaluate the role of maternal hyperphenylalaninaemia (HPA) as an isolated cause of mental retardation and microcephaly in children. This transversal study observed the plasma phenylalanine from mothers of 161 children with mental retardation and/or microcephaly of unknown origin. In this sample, we found two women with previously undiagnosed HPA, a frequency (2/161) higher than expected for our general population (1:12 500) (p < 0.001). We concluded that the plasma phenylalanine levels should be determined during preconceptional evaluation of every woman of reproductive age that already has had a child affected either by mental retardation or microcephaly of unknown cause. It is particularly significant where women currently having their pregnancies have not been screened for phenylketonuria as newborns, as happens in most developing countries.
我们试图评估母体高苯丙氨酸血症（HPA）作为儿童智力迟钝和小头畸形的独立病因所起的作用。这项横断面研究观察了161名病因不明的智力迟钝和/或小头畸形儿童母亲的血浆苯丙氨酸水平。在这个样本中，我们发现两名先前未被诊断出患有HPA的女性，其频率（2/161）高于我们普通人群的预期频率（1:12500）（p<0.001）。我们得出结论，对于每一位已育有病因不明的智力迟钝或小头畸形患儿的育龄妇女，在孕前评估期间都应测定其血浆苯丙氨酸水平。这一点在目前怀孕的妇女作为新生儿时未接受苯丙酮尿症筛查的情况下尤为重要，大多数发展中国家都是这种情况。
