What is Phenylketonuria
What is Phenylketonuria

What is Phenylketonuria?

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What is Phenylketonuria?

What is Phenylketonuria? Phenylketonuria is a rare genetic disorder that arises from birth. This condition will cause the body can not break phenylalanine. Phenylalanine is an amino acid that the body needs in order to help the formation of proteins.

If the body can not process phenylalanine, the substance will accumulate in the blood and brain. High levels of phenylalanine and untreated have the potential to trigger serious complications:

  • Permanent damage to the brain.
  • Nerve disorders, such as tremors or seizures.
  • The size of the head is small so it looks unnatural.

Symptoms of Phenylketonuria

Phenylketonuria usually has no early symptoms seen in newborns. If this condition is not caught and not treated as soon as possible when the baby is born, the symptoms will appear only a few months later. Signs of phenilketonuria not treated generally include:

  • Intellectual abnormalities or mental retardation.
  • Behavioral, emotional, and social disorders. For example, often grumpy.
  • Slow growth.
  • Epilepsy.
  • Tremor.
  • Frequent vomiting.
  • Skin disorders, such as rashes.
  • Smell musty on the breath, urine, skin, or child’s hair.

If handled as early as possible, these conditions rarely show symptoms later on. Early health checks on infants are highly recommended. This is done not only to check the potential for phenylketonuria, but also for other serious health conditions.

People who are pregnant phenylketonuria should also check themselves regularly and maintain their diet during pregnancy. High levels of phenylketonuria in the mother’s blood can harm the fetus because it can trigger a miscarriage.

Causes of Phenylketonuria

Phenylketonuria is a disease that arises from genetic mutations. The mutation then makes the phenylalanine hydroxylase gene does not produce the phenylalanine-decomposing enzyme in the body of the person. The cause behind the genetic mutation is not known for certain.

Experts believe that this condition is also closely related to heredity. If you have a father and mother who both carry phenylketonuria talents, the child will have about 25 percent chance of developing the condition.

Diagnosis of Phenylketonuria

Examination of phenylketonuria is usually done through a blood test at a one-week-old infant. If proven to have phenylketonuria, your baby will need routine checks to measure the levels of phenylalanine in the body. Based on the age of the person, the frequency of blood tests for phenylketonuria includes:

  • Once a week for babies up to six months old.
  • Once in two weeks for six months to four years.
  • Once a month for children over the age of four to adulthood.

Treatment of Phenylketonuria

Phenylketonuria includes incurable diseases. Treatment is done to control the phenylketonuria levels in the body so as not to trigger symptoms and complications.

The main step in dealing with this condition is by applying a diet low in protein. It is recommended to avoid protein-rich foods such as eggs, dairy products, fish, and all types of meat. Other types of foodstuffs should always be carefully selected and measured, including vegetables and fruits.

In addition to maintaining the diet, people with phenylketonuria are also required to consume amino acid supplements. This step is useful to meet the nutrients your body needs in growth.

People with phenylketonuria should always keep the phenylalanine levels in their body is not excessive. Before changing the diet, each person is encouraged to always discuss it with a doctor. Routine medical examination is also needed to combat the possibility of complications.

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