Phenylketonuria or PKU is a congenital disease caused by a genetic disorder. Phenylketonuria causes the sufferer to be unable to break down the amino acid phenylalanine, so that this substance menbuild up in the body.
Symptoms of phenylketonuria usually appear gradually. New symptoms appear if the accumulation of phenylalanine occurs continuously and interferes with brain function. Examples of symptoms are seizures, tremors or shaking, and slow growth.
Based on the severity, phenylketonuria is divided into two types, namely severe (classic) and mild phenylketonuria. In severe phenylketonuria, the enzyme needed to convert phenylalanine is lost or reduced drastically. This condition causes phenylalanine levels in the body to be very high and severe brain damage occurs.
In mild phenylketonuria, enzymes can still function, although not as well as normal. This condition causes the accumulation of phenylalanine is not too high.
Symptoms of Phenylketonuria
Symptoms of phenylketonuria appear slowly. Generally, these symptoms only appear when the child is 3-6 months old. Some of the symptoms that will appear are:
- Bad breath, urine, skin, or hair
- Rash on the skin or eczema
- Seizures
- Tremors or shaking
- The color of the skin, eyes, and hair changes to light
If left untreated, phenylketonuria can cause permanent brain damage. This condition can be characterized by several symptoms, such as:
- Inhibited growth and development of children
- Intellectual disorder or mental retardation
- Head size smaller than normal baby head size (microcephaly)
- Recurrent seizures
When to go to the doctor
Take the child to the doctor when experiencing the complaints and symptoms mentioned above. Early examination and treatment is needed to prevent complications.
If the child is born to parents with a history of phenylketonuria, take the child for regular check-ups to the doctor. The sooner detected and treated, the risk of phenylalanine buildup and severe brain damage can be lowered.
If you and your child have been diagnosed with phenylketonuria, do regular check-ups and follow the recommendations and special diet (diet) arrangements given by the doctor to prevent the buildup of phenylalanine in the body.
Causes of Phenylketonuria
Phenylketonuria is a disease caused by genetic mutations, which will cause the loss and reduction of the phenylalanine-degrading enzyme. This genetic mutation can also cause the phenylalanine-degrading enzyme to not work properly. These things will cause the accumulation of phenylalanine.
Until now, the cause of this genetic mutation is not known with certainty. Phenylketonuria is inherited in an autosomal recessive manner. That is, a person will only suffer from this disease if he gets the phenylketonuria gene from both parents.
If only one parent has the phenylketonuria gene, the offspring will not develop the disease. However, the child of the parent can be a carrier or carrier phenylketonuria gene.
Diagnosis of Phenylketonuria
To diagnose phenylketonuria, the doctor will ask and answer questions about the complaints and symptoms experienced by the patient as well as medical history in the family. Next, the doctor will perform a thorough physical examination. To confirm phenylketonuria, the doctor will ask the patient to perform supporting tests, such as blood tests and DNA tests.
If the baby has a risk of developing phenylketonuria, the examination can be started when the baby is one week old. This examination is done by taking a blood sample from the baby's heel or elbow to be examined in a laboratory.
If proven to have phenylketonuria, the baby should undergo regular examinations to measure the levels of phenylalanine in his body. The frequency of blood tests performed to monitor phenylalanine levels are:
- Once a week, in infants aged 1-6 months
- Every two weeks, for babies aged 6 months to 4 years
- Once a month, for children over 4 years old to adults
Phenylketonuria Treatment
Phenylketouria cannot be cured. Treatment of phenylketonuria aims to control phenylalanine levels in the body so that it does not cause symptoms, and to prevent complications.
Treatment of phenylketonuria begins with adopting a diet that is low in phenylalanine. In infants who consume formula milk, parents should consult with a pediatrician regarding the appropriate type of formula milk.
After the child can consume foods other than breast milk, parents are asked to keep away from foods that contain lots of protein, such as eggs, milk and their processed products, fish, and all types of meat. In order to maintain the intake of amino acids, children can be given amino acid supplements according to the doctor's instructions.
This low-phenylalanine diet should still be followed until children grow up to be teenagers and even adults. In addition to avoiding foods high in phenylalanine, sufferers should also avoid foods, drinks, and syrup-shaped drugs that contain artificial sweeteners.
To monitor the levels of phenylalanine in the body, the patient will be asked to undergo regular blood tests. This monitoring can also prevent patients from complications of phenylketonuria.
Complications of Phenylketonuria
Phenylketonuria that does not get proper treatment will cause several complications, namely:
- Permanent brain damage
- Child development is stunted
- Behavioral and emotional disorders
- Seizures and tremors
If the phenylketonuria that occurs in pregnant women is not treated, complications can arise in the form of miscarriage or the baby is born with congenital abnormalities, such as congenital heart disease and microcephaly (smaller head size).