Sabtu, 19 Agustus 2017

What You Must Know about Phenylketonuria Disease


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, then this substance will accumulate in the blood and brain. High levels of phenylalanine and not
  • Damage to the brain.
  • Neurological disorders, such as tremor or seizures.
  • The size of a small head so unnatural.

Symptoms of Phenylketonuria

Phenylketonuria usually has no early symptoms seen in newborns. If this condition is not discovered and not as soon as the baby is born, the symptoms will be seen only a few months later. Unusual signs of phenylketonuria;
  • Intellectual abnormalities or mental retardation.
  • Behavioral, emotional, and social behavioral disorders. For example, often grumpy.
  • Slow growth.
  • Epilepsy.
  • Tremor.
  • Frequent vomiting.
  • Skin disorders, such as rashes.
  • Smell musty on the breath, pee, skin, or child's hair.

If necessary 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 also automatically 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 cope with miscarriage.

Causes of Phenylketonuria

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

Experts believe this condition is also closely related to hereditary factors. 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 a routine check to measure the levels of phenylalanine in the body. Based on the age of the person, the frequency of blood tests for phenylketonuria coverage:
  • Once a week for a six month old baby.
  • Once in two weeks for six months to four years.
  • Once a month for children aged over four years to adults.

Treatment of Phenylketonuria

Phenylketonuria includes incurable diseases. Treatment is done to increase the levels of phenylketonuria in the body so as not to.

The main step in this case is to apply a diet low in protein. It is advisable to avoid protein-rich foods such as eggs, dairy products, fish, and all kinds of meat. Other types of foodstuffs should always be carefully selected and picked, 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 handle it with a doctor. Routine medical examination is also needed to combat the possibility of complications.
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