Phenylketonuria

1. Phenylketonuria:
2. Topic: Pain Management, Palliative Care, Metabolic, Endocrine, Genetic, and Chronic Conditions Management PlansThis week, we will be discussing pain management, palliative care, metabolic, endocrine, genetic, and management plans with a focus on pharmacological treatment.
3. Discussion on how recommended pharmacotherapy improves pediatric health outcomes in primary care.You are expected to present your initial topic including, but not limited to, the following item:
4. Management plan to include diagnostic testing, medications, follow-up plans, and referrals if needed.

APA style, at least 3 citations, no more than 5 years old

Answer preview

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.

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