What is phenylketonuria and can it be cured

2024 Author: Malcolm Clapton | [email protected]. Last modified: 2023-12-17 03:44

A special diet will help to avoid the consequences of the disease.

What is phenylketonuria

Phenylketonuria Phenylketonuria (PKU) is a rare inherited disorder in which the amino acid phenylalanine cannot be absorbed by the child. It remains in the blood and acts as a toxin on the nervous system.

Phenylketonuria is inherited by Phenylketonuria in an autosomal recessive manner. This means that a defective gene is passed on to a child from two apparently healthy parents, on which the metabolism of phenylalanine depends. A mutation in a gene can be complete, then the disease has severe severe symptoms. If the defect is incomplete, phenylketonuria proceeds in a milder form, the pathology is less noticeable.

What are the symptoms of phenylketonuria

Immediately after birth, the baby feeds on milk, which is high in protein. It consists of amino acids, which means it also contains phenylalanine. Therefore, after a few days, when the substance accumulates in the blood, the child develops symptoms of the disease. These may include Phenylketonuria (PKU):

• musty odor from the mouth, skin and urine;
• a red rash on the body;
• convulsions.

Doctors sometimes notice that a baby was born with an abnormally small head. Children with this condition often have light blue eyes and pale skin. This is due to the fact that phenylalanine is needed for the synthesis of the pigment melanin, which gives color to the iris and skin.

Why phenylketonuria is dangerous

In children with this genetic disorder, excess phenylalanine in the blood damages tissue. Most of all this is manifested in the nervous system. If the disease is left untreated, the brain is affected. Doctors notice Phenylketonuria (PKU), that such children are hyperactive from an early age, have poor emotional control. Their mental development is delayed, and many have behavioral problems or mental disabilities.

With delayed treatment, it is almost impossible to restore the normal functions of the nervous system. Therefore, it is important to recognize the pathology as early as possible.

How is phenylketonuria diagnosed?

By order of the Order of the Ministry of Health and Social Development of the Russian Federation of March 22, 2006 No. 185 "On mass examination of newborn children for hereditary diseases" (together with the "Regulations on the organization of a mass examination of newborn children for hereditary diseases" on hereditary diseases ") Ministry of Health and Social Development of the Russian Federation dated March 22, 2006 No. 185" On mass examination of newborn children for hereditary diseases "all infants on the fourth or seventh day after birth take blood from the heel for examination for five genetic syndromes. They can affect the further development of the child. It:

• phenylketonuria;
• galactosemia;
• adrenogenital syndrome;
• congenital hypothyroidism;
• cystic fibrosis.

If a positive test result comes, the child will be prescribed corrective treatment.

How is phenylketonuria treated?

It is impossible to get rid of a genetic defect. But a doctor can recommend a special diet. What are common treatments for phenylketonuria (PKU)?, which excludes foods rich in protein. Then phenylalanine will not enter the body and there will be no risk of complications. People with phenylketonuria should not:

• eggs;
• milk and cheeses;
• meat: chicken, pork, beef;
• fish;
• legumes, soy;
• beer.

Also avoid using the sweetener aspartame. What are common treatments for phenylketonuria (PKU)? which, when digested, releases phenylalanine. This sugar substitute is often added to soda, chewing gum, and some medications.

But such a lifelong protein-restricted diet is bad for the development of the body. Therefore, the doctor may recommend special nutritional treatments for children. What are common treatments for phenylketonuria (PKU)? mixtures.

For the treatment of patients with phenylketonuria, the drug Phenylketonuria: Management and Treatment based on saproterin dihydrochloride has been approved. This substance helps to break down phenylalanine and reduce its concentration in the blood. But to use What are common treatments for phenylketonuria (PKU)? the medicine is needed only in combination with a diet.

There are no other options yet. Scientists are looking for a way What are common treatments for phenylketonuria (PKU)? how to carry out gene therapy to introduce the missing part of the chromosome. Some suggest giving patients other amino acids that will prevent phenylalanine from entering the brain. But these methods are still under investigation.