Although PKU is a rare genetic disease, failure to pay attention to it in a timely manner will lead to serious symptoms. So learn about the most important symptoms of PKU and how it is diagnosed and treated.

What is PKU?

Phenylketonuria is a rare genetic condition that causes an accumulation of the amino acid (phenylalanine hydroxylase) in the body, as a result of a defect in the PAH gene, which helps form the enzyme needed to break down phenylalanine.

Although amino acids are the basis for building protein in the body, in the absence of this enzyme, which helps to analyze phenylalanine, a PKU patient becomes exposed to severe health problems if he eats protein-containing foods such as eggs and meat, or when eating foods that contain on the artificial sweetener aspartame.

It is also in the event that the pregnant mother is infected with it and is not controlled by the special diet. A child may be born with phenylketonuria, but in a more severe form. It can also cause the baby to be born with birth defects such as heart problems and small head size.

An infant with phenylketonuria (PKU) may appear normal in the first months of life. So it helps early examination to start treatment immediately after birth. This helps relieve symptoms of phenylketonuria and protect against brain damage. Also, PKU patients should follow a healthy diet that limits the intake of foods that contain phenylalanine.

PKU types

The severity of PKU varies according to the type.

• Classic phenylketonuria: The most severe form of this disease is known as classic or classic phenylketonuria. This is when blood levels of phenylalanine become elevated
• Mild phenylketonuria: This type is less severe as blood levels rise slightly, and the enzyme retains some of its functions. This helps keep levels of phenylalanine from dangerously high, which reduces the risk of brain damage.
• Variable phenylketonuria: In this type, blood levels of phenylalanine are neither low nor high.

With all the different types of this disorder, the child still needs to follow a special healthy diet in order to prevent the risk of mental disabilities and its other complications.

Symptoms of phenylketonuria (PKU).

The severity of PKU symptoms may vary from case to case. Newborns do not show symptoms of this disorder at first, but in the event of delay in diagnosing and treating the condition, symptoms of phenylketonuria begin to appear within a few months. Symptoms of phenylalgia are:

• Hyperactivity
• The child’s growth has stopped
• Neurological problems such as epilepsy, tremors and body tremors
• The emergence of skin diseases such as eczema
• Foul smell in urine, skin, and breath
• The color of the skin is light, as well as the eyes and hair

Complications of phenylketonuria

Also, failure to diagnose PKU and start treating it quickly may lead to serious health complications, such as:

• Irreversible brain damage
• intellectual disability
• Behavioral, social and emotional problems in the child

However, with the start of the necessary treatments and a healthy diet appropriate to the condition, the symptoms begin to become less severe. Usually, a PKU patient does not show any symptoms if he gets the right treatment and diet at the right time.

Diagnosis and analysis of PKU

PKU is diagnosed by taking a sample of the infant’s blood. Where the doctor uses a needle and a needle to get a few drops of blood from the heel of the child. This is to perform an analysis of PKU and other genetic disorders. Usually, this analysis is performed one or two days after the birth of the baby, and is known as the newborn’s heel analysis.

Normal range for PKU analysis

The normal range for Phe levels in the blood is about 2 mg per deciliter. But if the levels are more than 4 mg per deciliter, it is considered high. In order to obtain proper results, this test is not performed until at least one day after the birth of the child so that the test does not give false results, which are known as false positives, given that the enzyme responsible for analyzing Phe levels has not yet fully developed.

Treatment of phenylketonuria (PKU).

Treatment of PKU patients depends mainly on following a special diet and having regular blood tests throughout their lives. Where treatment depends mainly on keeping the levels of phenylalanine in the blood low.

Diet for patients with phenylketonuria

The first line of defense for treating phenylketonuria (PKU) is to follow a special low-protein diet Food containing phenylalanine. Where you should avoid eating the following foods, which are rich in protein.

• eggs
• meat
• gene
• the milk
• Nuts
• legumes
• chicken
• fish

This is in addition to avoiding eating vegetables that also contain protein.

Avoid taking aspartame

Avoid foods and drinks that may contain aspartame (an artificial sweetener made from phenylalanine). This artificial sweetener is usually used in the production of tea, coffee, chewing gum, and low-calorie drinks.

It is necessary to note that the diet may differ from one case to another according to the type of PKU disorder and the severity of the symptoms. Therefore, you must follow up with the attending physician or nutritionist in order to ensure that the body obtains the appropriate nutrients and to monitor the levels of phenylalanine acid.

In addition, you should avoid getting medicines that may contain aspartame, such as some medicines for treating flu and colds in children. So be sure to read the label on the food product or the drug information leaflet that comes with the medicine package.

Special dietary supplement for patients with PKU

In order for a PKU patient to get a sufficient amount of protein without harming him, people with this disorder take a special nutritional supplement for phenylketonuria. It is a formula that contains all the amino acids that the body may need, except for phenylalanine.

Doing blood tests

Patients with phenylketonuria (PKU) will usually need to have regular blood tests throughout their lives to measure levels of phenylalanine in the blood and to assess how well the condition is responding to treatment. The blood test is usually done as follows:

• From 6 months or younger: A blood test is done once a week
• From 6 months to 4 years: The blood test is done once every two weeks
• Over the age of 4 years: A blood test is done once a month

In the end, we recommend that the mother, who may have given birth outside the hospital, go to do the necessary analyzes to check on the health of her child, and to avoid any potential health risks that she may not realize exist in the first days of the child’s life, in order to secure a suitable life for him.