Phenylketonuria or so-called PKU is a rare genetic disorder that causes amino acids called phenylalanine to accumulate in the body. This condition is caused by a defect in the gene that helps create the enzymes needed to break down phenylalanine. Without these enzymes, the body cannot process phenylalanine, consequently phenylalanine will accumulate in the blood and brain.
Also read: 6 Diseases Due to Enzyme Deficiency
Risk Factors for Phenylketonuria
The following factors can increase a baby’s risk of developing phenylketonuria:
- Having both parents with a gene defect that causes phenylketonuria.
- Being of certain ethnic descent. Gene defects that cause phenylketonuria vary depending on ethnic group. Phenylketonuria is more common in other ethnic groups outside the African-American group.
Causes of Phenylketonuria
Genetic mutations are the cause of phenylketonuria. The mutation then makes the phenylalanine hydroxylase gene not produce the phenylalanine decomposing enzyme in the body of the sufferer. The cause behind genetic mutations is not known with certainty. Experts believe that this condition is also closely related to heredity. If you have a father and mother who both carry the talent of phenylketonuria, the child will have about 25 percent chance of developing the condition.
Phenylketonuria Symptoms
Phenylketonuria generally does not cause symptoms in newborns. If this condition is not known and treated when the baby is born, the symptoms will only appear a few months afterwards. Signs of phenylketonuria that are not treated generally include:
- Intellectual disorders or mental retardation.
- Behavioral, emotional and social disorders. For example, often grumpy.
- Slow growth.
- Frequent vomiting.
- Skin disorders, such as rashes.
- Musty odor in a child’s breath, urine, skin or hair.
When treated as early as possible, phenylketonuria rarely shows symptoms later in life. Early health examination in infants is very important. Not only to detect the potential for phenylketonuria, but also various other serious health conditions.
People with phenylketonuria who are pregnant should also check themselves regularly and maintain their eating patterns during pregnancy. This is because high levels of phenylketonuria in the blood of pregnant women can harm the fetus, because it has the potential to cause miscarriage.
Diagnosis of Phenylketonuria
Phenylketonuria can be detected by screening newborn babies by taking blood samples. Screening tests are done when babies are one to two days old who are usually still in the hospital. In addition, additional tests may need to be done to confirm the initial test results. The additional test aims to look for the presence of PAH gene mutations that cause phenylketonuria.
If the symptoms of phenylketonuria are experienced by children or adults, such as growth retardation, the doctor will recommend a blood test to confirm the diagnosis. This test involves taking a blood sample and analyzing it to find out the presence of enzymes needed to break down phenylalanine.
Complications of Phenylketonuria
Untreated phenylketonuria can cause complications for the sufferer, both in infants, children, and adults. Here are some complications that can occur due to phenylketonuria:
- Permanent damage to the brain.
- Nerve disorders, such as tremors or seizures.
- Small head size, so it looks unnatural.
- Birth defects or miscarriage.
Also read: Danger of Phenylalanine Stacking in Pregnant Women
Phenylketonuria Treatment
Unfortunately, phenylketonuria cannot be cured. Treatment can only control the levels of phenylketonuria in the body so as not to trigger symptoms and complications. Here are some treatments that need to be done by people to treat phenylketonuria:
- Take an amino acid supplement. This step is useful to meet the nutrients the body needs in growth.
- Keeping the levels of phenylalanine in the body not excessive. Before changing your diet, every person is recommended to always discuss it with your doctor.
- Routine health condition checks are also needed to deal with possible complications.
Also read: How to treat phenylketonuria?
Prevention of Phenylketonuria
Implement a low protein diet. It is recommended to avoid protein-rich foods such as eggs, dairy products, fish, and all types of meat. Other types of food must always be carefully selected and measured, including vegetables and fruit. Another thing to note is that women who are planning a pregnancy need to have a genetic examination before having children.
When to see a doctor?
Seek immediate medical attention if you experience any of the following conditions:
- In newborns. If newborn screening tests routinely show signs that the baby might have phenylketonuria, then the pediatrician will immediately begin dietary treatment to prevent long-term problems.
- In women of childbearing age. It is very important for women with a history of phenylketonuria to see a doctor and maintain a phenylketonuria diet before pregnancy and during pregnancy. The point is to reduce the risk of increasing levels of phenylketonuria which can harm the fetus.
