Abstract
A woman’s nutritional status before and during pregnancy can affect the health of her progeny. Phenylketonuria (PKU), a rare disorder causing high blood and brain phenylalanine (Phe) concentrations, is associated with neurocognitive disability. Lifelong treatment is mainly dietetic with a Phe-restricted diet, supplemented with a low-Phe protein substitute. Treatment adherence commonly decreases in adolescence, with some adults ceasing dietary treatment. In maternal PKU, elevated blood Phe is harmful to the fetus so a strict Phe-restricted diet must be re-established preconception, and this is particularly difficult to achieve. A woman’s reproductive years introduces an opportunity to adopt healthier behaviours to prepare for successful pregnancies and positive health outcomes for both themselves and their children. Several factors can influence the health status of women with PKU. Political, socioeconomic, and individual food and lifestyle choices affect diet quality, metabolic control, and epigenetics, which then pre-condition the overall maternal health and long-term health of the child. Here, we reflect on a comprehensive approach to treatment and introduce practical recommendations to optimize the wellbeing of women with PKU and the resultant health of their children.
Highlights
Phenylketonuria (PKU, OMIM 261600) is an inherited metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) enzyme that impairs phenylalanine (Phe) metabolism, leading to high blood and brain Phe concentrations
In women with PKU, less consideration is given to theall overall quality of nutritional care inpoor the reproductive years and maternal and pregnancy health leads to a higher risk of disease in their children as care in the reproductive years and interpregnancy
Dietary adherence becomes increasingly challenging with age and metabolic control commonly deteriorates from adolescence [14–18]; it is estimated that 25% to 40% of adults who remain in clinical follow up discontinue treatment [19]
Summary
Phenylketonuria (PKU, OMIM 261600) is an inherited metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) enzyme that impairs phenylalanine (Phe) metabolism, leading to high blood and brain Phe concentrations. In women with PKU, less consideration is given to theall overall quality of nutritional care inpoor the reproductive years (spanning from mid-adolescence until mid-adulthood) and maternal and pregnancy health leads to a higher risk of disease in their children as care in the reproductive years (spanning from mid-adolescence until mid-adulthood) and interpregnancy. The nutritional health of many women with PKU at the time of conception is likelyeven if tobebesub-optimal, sub-optimal, if a strict dietary treatment been maintained they are able to maintain metabolic control. Cohort studies have shown thatthat improving dietary patterns terns up factors toyears threethat years to conception can influence pregnancy tional may affect the can foetal outcome in women withoutcomes, are includpresented in for upfor to three prior toprior conception influence pregnancy outcomes, including lowing lowering the risk ofbirth preterm birth [8].
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