Running head: PHENYLKETONURIA

Phenylketonuria

Briana Inestroza

Brigham Young University – Idaho

Nursing 410

Sister Barnhill/Forbush
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Phenylketonuria

Background

Phenylketonuria (PKU) is an inherited metabolic diseases that requires a lifestyle of

closely monitoring diets. PKU is an autosomal recessive trait that is tested for at birth. PKU is

defined by the inability or absence of a hepatic enzyme, phenylalanine hydroxylase, that

metabolizes amino acid and phenylalanine (Perry et al., 2018). If left untreated, the brain and

other body fluids accumulate phenylalanine. The result of phenylalanine accumulation in the

brain often leads to cognitive delay and impairment such as failure to thrive, irritability, and

unpredictable, erratic behavior (Bartus et al., 2018). Screening and diagnosing is done for

newborns in order to prevent cognitive impairment.

Parent Education

Upon diagnosing a newborn with PKU, parents should be immediately educated on the

newborn’s condition. Education should consist of what causes PKU and how to properly

manage it. PKU is an autosomal recessive disorder inherited from both parents. This means that

even though parents may not have PKU, they are carriers of the gene PAH. Both parents being

carriers of the PAH leave the child at a 25% of acquiring PKU (Lewis et al., 2017). The parents

should be assured that there is no way of preventing PKU and that no one is at fault. In a study

found in the Journal of Genetic Counseling, parents of children diagnosed with PKU viewed it as

a large stressor in their life (Carpenter et al., 2018). Proper education by the health care provider

and appropriate resources minimizes stress and enhances proper treatment.

The main focus in treating PKU is to minimize any cognitive impairments. This is done

by properly managing the diet. The main diet fixation is restricting phenylalanine, which is

commonly found in proteins such as meats, dairy, nuts. While restricting the previously listed
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foods may seem simple, the problem is ensuring optimal nutrition for growth. Phenylalanine

levels should be within safe levels (2-6 mg/dL) (Perry et al., 2018). For newborns and infants,

maintaining a proper diet is difficult. Phenylalanine-free formulas exist and still provides the

proper amounts of protein, vitamins, amino acids, and minerals. The formulas available have the

nutrition necessary for growth. While the formula may seem problem-free, challenges may still

arise. The appropriate formula may be more lumpy than normal formulas, which is easily

resolved with blenders; however this can be a problem during traveling. Another challenge is the

taste of the formula but recent advancements have been made to flavor the formula. Breastmilk

contains low levels of phenylalanine which makes breastfeeding possible, however it should be

monitored.

Preparing food for children as they grow older tends to become more difficult for parents.

Maintaining strict dietary restrictions becomes demanding. Preparation of phenylalanine-free

foods becomes more time consuming as kids begin transitioning into solid foods. Snacks and

meals should consist of vegetables, juices, cereals, breads, and starches (Perry et al., 2018).

Meats, dairy, and the sweetener aspartame are eliminated from the diet due to the high

phenylalanine levels. As children gain more autonomy over their diet, the proper diet becomes

more difficult to maintain. Children become more interested in eating the things that they see

their peers eating, such as ice-cream and hamburgers. It is advised that by early preschool

children are involved in meal planning and daily calculations of appropriate phenylalanine

levels. A registered dietitian can positively impact the management of PKU. It is important to

remember that this special diet must be followed throughout the entirety of the patient’s life.

Early involvement of children in meal planning leads to better management throughout life.

Formula is needed for life to ensure proper nutrients. As mentioned above, the formula is
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distasteful. It can be added to foods or taken as formula. Formula bars are also available, and are

more convenient for adolescents and adults.

References

Bartus, A., Palasti, F., Juhasz, E., Kiss, E., Simonova, E., Sumanszki, C., & Reismann, P. (2018).

The influence of blood phenylalanine levels on neurocognitive function in adult PKU

patients. Metabolic Brain Disease, 33(5), 1609–1615.

Carpenter, K., Wittkowski, A., Hare, D. J., Medford, E., Rust, S., Jones, S. A., & Smith, D. M.

(2018). Parenting a child with phenylketonuria (pku): An interpretative

phenomenological analysis (ipa) of the experience of parents. Journal of Genetic

Counseling, 27(5), 1074–1086.

Lewis, S., Butcher, L., Heitkemper, M., Harding., M., Kwong, J., & Roberts, D. (2017).

Medical-surgical nursing: Assessment and management of clinical problems (10th ed.).

St. Louis, MO: Elsevier.

Perry, S., Lowdermilk, D., Cashion, K., Alden, K., Olshansky, E., Hockenberry, M., & Rodgers,

C. (2018). Maternal child nursing care (6th ed.). St. Louis, MO: Elsevier