Phenylketonuria, also known as PKU, is a rare disorder that can cause the buildup of phenylalanine (an amino acid) in the body. This condition happens due to a defect in the genes whose work is to create the enzymes that are needed to break down phenylalanine.
Depending on the severity of the condition, there are two types of PKU. These include:
PKU symptoms can range from being mild to severe. In some cases, infants with PKU do not show any signs, and symptoms during the initial phases. If proper treatment is not given to the baby, the following symptoms may appear:
Immediate treatment is crucial in the cases of PKU as it may lead to several lifelong complications in the child.
While PKU can occur to anyone, there are a few risk factors that are associated with its development. These risk factors include the following:
Since it is a genetic disorder, one of the main phenylketonuria causes is the defect in the genes. The person inherits the defect in the PAH gene that helps in creating phenylalanine hydroxylase, the enzyme responsible for breaking down phenylalanine.
When a person eats high-protein foods like meat or eggs, it can lead to a dangerous build-up of phenylalanine. This further can affect the nerve cells in the brain.
Notably, this condition is passed on to the child only when both the parents have the defective gene. In case when only one parent has the defective gene, the child then just becomes a carrier and does not have the disease.
Phenylketonuria diagnosis is usually done at birth or when the baby is just a day or two old. The basic phenylketonuria test is done by taking the blood samples. Some other tests such as urine tests or genetic tests may be performed to confirm the presence of defects.
In case a child or adult shows symptoms of PKU, the doctors conduct a blood test to analyze the presence of the enzyme needed to break down phenylalanine.
PKU treatment focuses on the alleviation of the symptoms and managing a good lifestyle with Healthy Indian Food. So, if you or any of your loved one is looking for a treatment, here is what you can expect:
Phenylketonuria prevention cannot be done since it is a genetic disorder. However, if you and your partner have PKU and planning to get pregnant, there are some things you can try to lower the risk of PKU in your baby:
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