Homework SourseWhat medical procedures are applied to reduce or avoid poten
Solution
Phenylketonuria (PKU) is an autosomal recessive trait where babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is necessary to break down an essential amino acid called phenylalanine. This substance is found in foods that contain protein.
Without this enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage. Symptoms may include :
There is no cure for PKU, but it is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing and should be started as soon after birth as possible. The diet must be strictly followed. This requires close supervision by a doctor, and cooperation of the parent and child. In the past, experts believed that it was safe for people to stop following the diet as they got older. However, now it is recommended that people with PKU stay on the diet throughout their lives for better physical and mental health. It is important for a pregnant lady with PKU to strictly follow a low-phenylalanine diet throughout her pregnancy to ensure the development of a healthy infant.
Phenylalanine occurs in significant amounts in
These should be strictly avoided. Any products containing aspartame should also be avoided as aspartame releases phenylalanine when it is digested, so it raises the level of phenylalanine in a person\'s blood.
The amount of phenylalanine that is safe to consume differs from person to person. Therefore, a person with PKU needs to develop an individualized diet. The goal is to eat only the amount of phenylalanine necessary for the body but not any extra. Frequent blood tests and doctor visits should be done to help determine how well the diet is working.
Taking supplements such as fish oil in order to makeup for the missing long chain fatty acids of a standard phenylalanine-free diet may improve neurologic development, including fine motor coordination. Other specific supplements like iron or carnitine can be taken.
PKU Formula
People who follow the PKU diet does not get enough essential nutrients from food. Thus theyshould drink a special formula. A newborn diagnosed with PKU should receive special infant formula called Lofenalac. The formula can be mixed with a small amount of breast milk or regular infant formula to ggive the child gets enough phenylalanine needed for normal development of body without causing harm. Older children and adults receive a different formula every day throughout a person\'s life to meet their nutritional needs.
Other supplements like fish oil may be recommended to help with fine motor coordination and other aspects of development.
Medication for PKU
The Food and Drug Administration (FDA) of U.S has approved the drug sapropterin dihydrochloride (Kuvan®) for the treatment of PKU. Kuvan® is a form of BH4, which is a substance in the body which helps to break down phenylalanine. Too little BH4 in the body is a one reason a person is not able to break down phenylalanine. Therefore, this medicine only helps some people to reduce the phenylalanine in their blood. Although it will not decrease the phenylalanine to the desired amount and should be used together with the PKU diet.
Other Treatments for PKU
Additional treatments for PKU include large neutral amino acid supplementation, which helps to prevent phenylalanine from entering the brain, and enzyme replacement therapy, which uses a substance similar to the enzyme that usually breaks down phenylalanine. The possibility of using gene therapy is also noted.
