The Impact of the Quality of Nutrition and Lifestyle in the Reproductive Years of Women with PKU on the Long-Term Health of Their Children

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.

Circulatory Metabolite Ratios as Indicators of Lifestyle Risk Factors Based on a Greek NAFLD Case–Control Study

“…Phenylketonuria was also revealed as a potential disease, but since it is an inherited metabolic disorder that impairs the phenylalanine (Phe) metabolism, it is probably loosely connected to lifestyle [ 67 ]. However, it may appear in a person with PKU after the consumption of protein-rich foods, or grains or aspartame (milk, cheese, nuts, meat, bread, pasta).…”

The organizational dimension in rare diseases care management: an application of RarERN Path© methodology in the rare neurological diseases Ataxia, Dystonia and Phenylketonuria

“…The early detection of HPA and its treatment can prevent neurological damags [24][25][26][27][28][29] . The patients are referred to the specialized metabolic centers in different ways.…”

“…Finally, the organization of biochemical laboratory tests (blood Phe measurements) should be mandatory. The primary goal of treatment is normal neurocognitive and psychosocial functioning [24][25][26][27][28][29] . PKU treatment consists of dietary management: natural protein restriction, Phe-free/low phenylalanine protein in substitutes, and low protein (LP) special food.…”

Assessing the lived experiences of females with phenylketonuria in their health management

“…Females of reproductive age with PKU face additional challenges, as they are at risk for having a child with maternal phenylketonuria (MPKU). MPKU can occur when a child is born to a woman with PKU who did not maintain metabolic control pre-conception and throughout pregnancy [ [5] , [6] , [7] ]. MPKU is associated with intellectual disability, microcephaly, congenital heart disease, and other birth defects of the fetus [ [5] , [6] , [7] ].…”

“…MPKU can occur when a child is born to a woman with PKU who did not maintain metabolic control pre-conception and throughout pregnancy [ [5] , [6] , [7] ]. MPKU is associated with intellectual disability, microcephaly, congenital heart disease, and other birth defects of the fetus [ [5] , [6] , [7] ]. As the fetal blood Phe concentration can be up to twice as high as the mother, pregnant women are under a particular amount of pressure to maintain their Phe concentration between 2 and 6 mg/dL [ 6 ].…”