Phenylketonuria (PKU) Disease in Children
In children, phenylketonuria (PKU) disease is often asymptomatic until 3 months of age, when symptoms usually appear. If left untreated, this disease may cause a child to develop a low-level of phenylalanine in their blood. However, if the disorder is not caught in time, the child may develop more severe symptoms. Blood tests can help doctors diagnose PKU.
What is the life expectancy of someone with PKU?
A person with PKU will need regular blood tests throughout their lifetime. These tests measure the level of phenylalanine in their blood and help doctors monitor their condition. These tests can be performed at home, or mailed to a hospital. Children may even perform these tests themselves. If you think you or someone you know may have PKU, make sure to seek medical attention as early as possible.
If PKU is not diagnosed in early childhood, the disease will likely develop into a serious condition. It can cause intellectual disabilities if not treated. Children with PKU should eat a diet low in phenylalanine to reduce the risk of cognitive impairment.
Is PKU a fatal disease?
PKU is a genetic disease resulting from an altered gene. Because it is autosomal recessive, it is passed down to babies through both parents. In addition, a carrier may be a parent who does not have the disease, but who carries the affected gene. Children usually get PKU from two carriers, who are not aware of one another’s condition.
People with PKU can manage their symptoms by following a special diet, taking medications, or consuming special PKU formula. This diet is low in protein and contains other amino acids without phenylalanine.
What does it mean if you have PKU?
PKU is an inherited disease. Genetic tests are done to determine whether you or your child has the disease. If both of your parents have the disease, you have a 1 in 4 chance of getting it. Carriers of the disease have the abnormal gene but don’t show any symptoms or physical evidence of the disease. If your child has the disease, your main treatment is a diet that is low in protein.
While you may feel frustrated when you have to eat a special diet, there are many ways to stay motivated. For one thing, talking to other people with PKU disease can help you cope with the disease and help you stay on track with your treatment. PKU support groups are helpful and can be found online.
What is PKU and how is it treated?
PKU is a genetic disorder that occurs because of a defect in a gene called the PAH gene. This gene helps create an enzyme called phenylalanine hydroxylase. Without this enzyme, phenylalanine accumulates in the body. This buildup can lead to health problems if the patient is not diagnosed or treated. This deficiency in the PAH gene is inherited from both parents. Typically, the child with PKU will not show any symptoms but will carry the gene for the rest of their lives.
During early infancy, newborns are tested to check for PKU. If they test positive, they are put on a special formula. However, if the condition is not identified, the baby won’t show any symptoms until several months of age. During this time, babies with PKU may develop feeding difficulties and other symptoms.
Maple syrup urine disease
Maple syrup urine disease (MSUD) is an inherited metabolic disorder that affects the body’s ability to process amino acids. It is caused by a deficiency in an enzyme called BCKDC, which helps break down three important amino acids, branched chain amino acids (BCAAs). This condition results in abnormally high levels of these amino acids in the blood and other fluids. Symptoms of the disorder can include a high fever, a change in behavior, and sleepiness.
While the disease can be fatal if left untreated, it can be managed with the right treatment. There are several ways to treat the symptoms of MSUD, and they include proper diet, exercise, and a strict restriction of dietary protein.