Phenylketonuria, Causes, Diagnosis, Treatment, Prevention, Complications
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| Phenylketonuria, Causes, Diagnosis, Treatment, Prevention, Complications |
Phenylketonuria, Causes, Diagnosis, Treatment, Prevention, Complications
Phenylketonuria or PKU is a congenital disease caused by genetic disorders. Phenylketonuria causes sufferers to be unable to break down the amino acid phenylalanine so that this substance accumulates in the body. As a result, people with phenylketonuria can experience brain damage.
Phenylalanine is an essential amino acid contained in many food sources of protein, such as milk, eggs, meat, fish and soybeans. In patients with phenylketonuria, these foods cannot be broken down, because there is interference with the enzymes that function to break down these amino acids.
Based on the severity, phenylketonuria is divided into severe (classic) and mild phenylketonuria. In severe phenylketonuria, the enzymes needed to convert phenylalanine are missing or severely reduced. As a result, the level of phenylalanine in the body becomes very high, causing severe brain damage.
Meanwhile, in mild phenylketonuria, the enzymes can still function, although not as well as normal, so that the buildup of phenylalanine is not too severe.
Phenylketonuria generally only shows symptoms if the accumulation of phenylalanine occurs continuously and interferes with brain function. To relieve symptoms, sufferers must undergo a special diet for the rest of their lives.
Causes of Phenylketonuria
Phenylketonuria is caused by a genetic mutation (change) that reduces or even eliminates the enzyme that breaks down phenylalanine. As a result, the decomposing enzymes cannot work properly and cause a buildup of phenylalanine in the body.
Phenylketonuria is an autosomal recessive disease. In other words, a person can suffer from this disease if both parents suffer from a similar condition.
Meanwhile, if this disease is inherited from one of the parents, the child will not suffer from phenylketonuria, but may be a carrier of the phenylketonuria gene.
Symptoms of Phenylketonuria
Symptoms of phenylketonuria will usually appear gradually. Generally, these symptoms only appear when children are 3–6 months old. Some of the common symptoms of phenylketonuria are:
- Bad breath, urine, skin, or hair odor
- Rash on the skin or eczema
- seizures
- Tremors or shaking
- The color of the skin, eyes and hair turns light
If left untreated, phenylketonuria can cause permanent brain damage. This condition can be characterized by the following symptoms:
- Delayed growth and development of children
- Intellectual disorder or mental retardation
- Smaller head size than a normal baby's head (microcephalus)
- Recurrent seizures
When to see a doctor
Immediately consult your child to the doctor if you experience the complaints and symptoms mentioned above. Examination and early treatment is necessary to prevent complications.
Routine checks need to be done if a child is born to parents with a family history of phenylketonuria. The sooner it is detected and treated, the risk of phenylalanine accumulation and brain damage can be prevented.
If you and your child have been diagnosed with phenylketonuria, carry out routine controls, and follow the recommendations and special dietary arrangements given by the doctor to prevent phenylalanine accumulation in the body.
Diagnosis of Phenylketonuria
To diagnose phenylketonuria, the doctor will conduct a question and answer about complaints and medical history in the patient's family. Next, the doctor will carry out a thorough physical examination. After that, the doctor will carry out supporting examinations in the form of blood tests and DNA tests.
In infants who are at risk of experiencing phenylketonuria, examinations can be started when the baby is 1 week old. This examination is done by taking a blood sample from the baby's heel or elbow to be examined in the laboratory.
If it is proven that he has phenylketonuria, the baby must undergo routine checks to measure the level of phenylalanine in his body. The following is a routine checkup schedule to monitor phenylalanine levels in children:
- Age 1–6 months: once a week
- Age 6 months to 4 years: 2 weeks
- Age 4 years to adults: once a month
Phenylketonuria Treatment
Phenylketouria cannot be cured. However, a special diet can be given to the patient to control symptoms and prevent complications.
Treatment of phenylketonuria begins with adopting a diet that is low in phenylalanine. For parents whose babies consume formula milk, discuss with the pediatrician about the appropriate type of formula milk.
After the child is able to consume solids, parents will be asked not to give foods rich in protein, such as eggs, milk and their processed products, fish and all types of meat. To maintain amino acid intake in children, doctors can provide amino acid supplements according to the child's needs.
This low-phenylalanine diet must still be followed until you are a teenager and even an adult. Apart from avoiding foods high in phenylalanine, people with phenylketonuria should also not consume foods, drinks and medicines that contain artificial sweeteners.
To monitor phenylalanine levels in the body, patients will be asked to undergo regular blood tests. Phenylalanine levels in patients with phenylketonuria need to be maintained within the range of 120−360 micromol/L (2−6 mg/dL). The purpose of this monitoring is to prevent complications.
Phenylketonuria complications
Phenylketonuria that doesn't get proper treatment can cause several complications, such as:
- Permanent brain damage
- The growth and development of children is stunted
- Behavioral and emotional disturbances
- seizures
Phenylketonuria in pregnant women that is not treated can cause complications in the form of miscarriage or babies born with congenital abnormalities, such as congenital heart disease, or smaller head size (microcephalus).
Prevention of Phenylketonuria
Phenylketonuria is a hereditary disease. Therefore, the way to prevent this condition from occurring is by genetic screening and consulting a doctor before planning a pregnancy.
Examination also needs to be done if there is a history of phenylketonuria in the family. Thus, the baby's risk of developing phenylketonuria will decrease.
Meanwhile, in pregnant women who suffer from phenylketonuria, having a low-phenylalanine diet since before pregnancy can reduce the risk of complications in the fetus.
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