Extension: Your body is regulated by several processes. These processes rely heavily on enzymes. If enzymes are not present or functioning properly, health conditions can occur. Below are three health conditions caused by improperly functioning enzymes. Select one condition from the list that follows to research. Don’t forget to use at least 3 reputable sources. Write a brief paragraph summarizing its causes, symptoms, and treatments. You will share your findings in a small group. In your response be sure to include:

Question

Extension: Your body is regulated by several processes. These processes rely heavily on enzymes. If enzymes are not present or functioning properly, health conditions can occur. Below are three health conditions caused by improperly functioning enzymes. Select one condition from the list that follows to research. Don’t forget to use at least 3 reputable sources. Write a brief paragraph summarizing its causes, symptoms, and treatments. You will share your findings in a small group. In your response be sure to include:

The scientific and/or common name of the condition
What enzyme is not present or functioning properly?
Signs and symptoms
Who is typically impacted by this condition?
What treatments (if any) exist
List at least 3 links you used in your research.

Answer 1

Condition: Phenylketonuria (PKU)

Phenylketonuria, also known as PKU, is a genetic disorder that affects the metabolism of the amino acid phenylalanine. Individuals with PKU lack or have a significantly reduced activity of the enzyme phenylalanine hydroxylase (PAH), which is responsible for converting phenylalanine into another amino acid called tyrosine. Without PAH, phenylalanine builds up to toxic levels in the blood and brain, leading to various health problems. Symptoms of PKU include intellectual disability, developmental delays, seizures, behavioral issues, and a musty odor in the breath, skin, and urine. PKU is typically diagnosed soon after birth through newborn screening.

PKU mainly impacts infants and children since it is usually detected early in life. In most countries, newborns are routinely screened for PKU. If left untreated, PKU can lead to severe intellectual disability and other neurological complications. The primary treatment for PKU involves a strict lifelong low-phenylalanine diet. This diet restricts the intake of foods high in phenylalanine, such as meat, fish, dairy, eggs, nuts, and certain grains. Additionally, individuals with PKU may require phenylalanine-free medical formulas and supplements to ensure they meet their nutritional needs without exceeding the safe phenylalanine limit. Regular monitoring of blood phenylalanine levels is also essential. In some cases, medication may be prescribed to help manage phenylalanine levels.

Reputable sources used for research:
1. National PKU Alliance - https://npkua.org/
2. MedlinePlus - https://medlineplus.gov/phenylketonuria.html
3. Mayo Clinic - https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302