Levy Harvey L, Waisbren Susan E, Güttler Flemming, Hanley William B, Matalon Reuben, Rouse Bobbye, Trefz Friedrich K, de la Cruz Felix, Azen Colleen G, Koch Richard
Division of Genetics, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
Pediatrics. 2003 Dec;112(6 Pt 2):1548-52.
A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report.
Enrolled pregnancies in which the untreated prepregnancy assigned phenylalanine level (APL) was no more than 600 micro mol/L were included in the Maternal PKU Collaborative Study and were followed according to protocol.
Forty-eight enrolled women with non-PKU MHP had mean APL 408 +/- 114 micromol/L. They had a total of 58 pregnancies that resulted in live births. Fifty were untreated. Maternal phenylalanine (Phe) levels in the untreated pregnancies decreased during pregnancy for average Phe exposure of 270 +/- 84 micromol/L, virtually identical to the level of 269 +/- 136 micromol/L in the 8 treated pregnancies. Birth measurements in the 50 offspring from untreated pregnancies were within normal limits with z scores of -0.25 for weight, 0.28 for length, and -0.63 for head circumference, although birth head circumference was negatively correlated with maternal APL (r = -0.30). Only 1 offspring had congenital heart disease. Offspring IQ was 102 +/- 15 compared with 96 +/- 14 in the mothers with untreated pregnancies and with 109 +/- 21 in control offspring.
Maternal non-PKU MHP no more than 600 micromol/L does not require dietary therapy. The naturally lower Phe level during pregnancy seems to protect against teratogenesis.
母体苯丙酮尿症（MPKU）中的一个主要问题一直是母体非苯丙酮尿症轻度高苯丙氨酸血症（MHP）是否具有致畸性。本报告展示了此类未经治疗的妊娠及其结局。
母体苯丙酮尿症协作研究纳入了孕前未治疗时指定苯丙氨酸水平（APL）不超过600微摩尔/升的妊娠，并按照方案进行随访。
48名纳入研究的患有非苯丙酮尿症MHP的女性，平均APL为408±114微摩尔/升。她们共有58次妊娠并分娩出活产婴儿。其中50次妊娠未经治疗。未经治疗的妊娠中母体苯丙氨酸（Phe）水平在孕期下降，平均Phe暴露量为270±84微摩尔/升，与8次经治疗妊娠中的269±136微摩尔/升水平几乎相同。未经治疗妊娠的50名后代的出生测量值在正常范围内，体重的z评分为-0.25，身长为0.28，头围为-0.63，尽管出生头围与母体APL呈负相关（r = -0.30）。只有1名后代患有先天性心脏病。后代智商为102±15，与之相比，未经治疗妊娠的母亲智商为96±14，对照后代智商为109±21。
母体非苯丙酮尿症MHP不超过600微摩尔/升不需要饮食治疗。孕期自然较低的Phe水平似乎可预防致畸作用。
