Centre for Inherited Metabolic Diseases, Department of Clinical Genetics and of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
J Inherit Metab Dis. 2023 Jul;46(4):586-594. doi: 10.1002/jimd.12600. Epub 2023 Mar 6.
Strict metabolic control with dietary treatment during pregnancy is essential for women with phenylketonuria (PKU), as elevated levels of phenylalanine (Phe) are toxic to the developing fetus. Maternal delay in achievement of the recommended Phe level during pregnancy is associated with delayed development of the child. However, the extent to which risk is changed by later or less stringently performed dietary treatment is unclear. The aim of this study was to investigate the impact of Phe levels and time of initiation of a Phe-restricted diet in pregnant women with PKU on birth weight, head circumference and later development of their children. Birth data were obtained from the medical records of women with PKU giving birth in the period 1980-2020. Later development was investigated by interviewing the mothers about their children's development and health. We included 79 children of 41 women with PKU. The women showed good adherence with the diet and had mean blood Phe levels within target range (248 ± 62 μmol/L). The children's development was not affected by fluctuations in the women's Phe levels, that occurred especially in first trimester. Despite maternal Phe levels being within target range, 19 children (26.8%) had low birth weight below 10th percentile. This study indicates that with dietary treatment, the children are born with the same prospect for normal development and health as children born to non-PKU mothers. This is despite maternal fluctuations in the Phe levels during first trimester.
在怀孕期间，通过饮食治疗对患有苯丙酮尿症（PKU）的女性进行严格的代谢控制至关重要，因为苯丙氨酸（Phe）水平升高对发育中的胎儿有毒。母亲在怀孕期间未能达到推荐的 Phe 水平与儿童发育迟缓有关。然而，通过后期或不那么严格的饮食治疗来改变风险的程度尚不清楚。本研究旨在调查 PKU 孕妇怀孕期间 Phe 水平和开始限制 Phe 饮食的时间对其孩子出生体重、头围和后期发育的影响。出生数据从 1980 年至 2020 年期间 PKU 女性的医疗记录中获得。通过对母亲进行访谈，了解其孩子的发育和健康状况，调查后期发育情况。我们纳入了 41 名 PKU 女性的 79 名儿童。这些女性对饮食有很好的依从性，血液 Phe 水平均值在目标范围内（248 ± 62 μmol/L）。尽管女性的 Phe 水平在目标范围内，但仍有 19 名儿童（26.8%）出生体重低于第 10 百分位，属于低体重儿。本研究表明，通过饮食治疗，孩子出生时具有与非 PKU 母亲所生孩子相同的正常发育和健康前景。这是尽管在妊娠早期女性的 Phe 水平存在波动。
