Phenylketonuria (PKU)

Phenylketonuria, referred to as PKU, is a rare inherited disorder that affects an individual’s physical and mental development throughout the lifespan. PKU is inherited in an autosomal recessive pattern, meaning both parents carry one copy of the mutated gene and each cell has mutations. The disorder may also be indicated as Deficiency Disease and Folling’s Disease. Welsh et al. (1990) stated that this disorder is caused by the deficiency of a liver enzyme called phenylalanine hydroxylase, which is used to catalyze the transformation of phenylalanine to tyrosine. Phenylalanine is an essential amino acid that is found throughout the body. When an individual inherits such deficiency, the fundamental amino acid phenylalanine cannot undergo successful
Another common symptom found in children diagnosed with PKU is that they contain a musty odor that can be unpleasant to ones self or surroundings; this odor can be present in the skin, hair, urine and sweat. The skin itself is likely to have a reaction to high phenylalanine levels and can cause eczema. Eczema is categorized as rash that tends to make the skin become hard or flaky and can be very itching and irritating (Cazzorla et al., 2014). This skin problem has the potential of causing hair loss as well. In addition, the disorder is most commonly found in individuals with light physical coloration and complexion, such as blue eyes and blonde hair and bone and skeletal disfiguration like a smaller head than normal, flat feet, and short stature (Cazzorla et al., 2014). Having these disfigurations can increase the chances of an individual to also suffer from lack of self-worth, which can eventually lead to not being able to form and sustain social relationships (Clacy, Sharman, & McGill, 2014). The lack of self-worth can easily lead to major forms of depression and other self-confidence problems. Although these factors can have an overall negative impact on one’s life, several approaches have been formed to make sure the patient can live to his or her full
Everyday life can be extremely difficult to adapt to, especially when it comes to being aware of what foods one should digest on a daily basis. Since diagnosis is during the infancy and early childhood years, a parental figure is usually regulating such diet. A low-phenylalanine diet consists of carefully selected proportions of fruits, vegetables, and low-protein breads and pastas; and avoidance of high-protein foods (Widaman, 2009). For example, patients being treated with PKU are restricted to the intake of natural proteins from meats such as steak and pork chops along with dairy products that contain a high-protein count such as milk, eggs, and