Phenylketonuria

            Phenylketonuria (PKU) is a genetic condition or disorder that remains rare. It affects few people in the population. This disorder is mainly associated with causing an amino acid called Phenylalanine to accumulate in the body (Pugliese, Tingley, Chow, Pallone, Smith, Rahman, & Potter, 2020).  It is caused by defection in the human gene involved in creating an enzyme in the body required to break down these phenylalanine amino acids in the body.  Without an enzyme to process Phenylalanine, a dangerous buildup can develop, especially when the patient consumes protein food or eats aspartame, an artificial sweetener. This eventually results in serious health complications (Mancilla,  Mann, Zhang, & Allen, 2021).   As a strategy of managing PKU disorder, people with this condition, including children, adults, and babies, are required to adhere to a diet that limits Phenylalanine which is mainly found in proteins. Babies’ early detection of PKU helps in preventing health major health complications.

             Although PKU can be managed by limiting the intake of some protections and pharmacological intervention, the common drug mainly applied in managing PKU is Sapropterin (Kuvan).  These drugs help to help the body of a person with PKU to strengthen the tolerance to Phenylalanine (Metwally, Yousef Al-Ahaidib, Ayman Sunqurah, Al-Surimi, Househ, Alshehri, & AlOdaib, 2018).  Therefore, it lowers the chances of a person experiencing major health complications.  The main diagnostic testing for this disorder is blood testing, and those who test positive are limited to the intake. A person with this condition is mainly referred to as a nutritionist or dietitian who is well versed with PKU.   Also, a PKU patient may require to add a neural amino acid therapy which is a supplement added to the PKU diet.