Zar supports PKU patients

Suppose a child is hungry. You probably have several choices for his favorite food, but what do you do and how do you feel if the child has a disease that makes him always hungry? This condition that mothers and fathers of children with phenylketonuria (PKU) experience every moment and suffer as much as their child. Patients with phenylketonuria (PKU) are not deprived of eating protein-rich foods because of the restrictions imposed by the disease, and they always suffer from hunger.

Depending on their age, children have a strong desire to eat any kind of food. Imagine the family of a child who has phenylketonuria and must eat only certain foods for the rest of his life. How can they manage this issue?

Dr. Leila Kamali, Director of Research and Development of Zermakaron Company, pointing out that phenylketonuria is a type of hereditary metabolic disease that causes many hardships to sufferers due to food restrictions and a strict diet, said: Although the disease does not have a definitive cure, timely identification and compliance with related issues can bring a normal life to the sufferers.

Dr. Kamali added: People suffering from this disease cannot choose their favorite foods, and the use of foods containing large amounts of phenylalanine severely restricts the intake of other foods and does not provide them with the energy and nutrients they need.

According to academic estimates, one case of phenylketonuria is seen in every 25,000 live births in the world. Also, in the study of mutations in exon 11-10 of the phenylalanine hydroxylase gene in phenylketonuria patients, which was published in the 7th volume of the 25th edition of the Razi Medical Sciences Journal, the frequency of PKU disease in the Iranian population is estimated to be 1 in 3,627 people per live birth, which is due to the high rate of consanguineous marriage in this population.

Also, in another research conducted at Khorasan University of Medical Sciences in 2013, four cases out of 69,347 live births were discovered through screening. There was a family relationship in 80% of patients. Only 10% of patients were identified by screening in the first week. In the remaining 90%, the most common reason for seeing a doctor was developmental delay. The average age of diagnosis in these patients was one year and seven months.

What is PKU?
The letters P, K, and U are respectively taken from the words phenylketonuria. PKU is one of the genetic diseases that occurs due to the lack of an enzyme in the baby’s liver. Because substances called phenylketones are excreted in the urine of these people, that’s why the disorder is called phenylketonuria. In this disease, due to the deficiency of the phenylalanine hydroxylase enzyme, the amino acid phenylalanine is not converted into the amino acid tyrosine, and its accumulation in the blood causes growth disorders and mental retardation in children.

PKU was studied for the first time in 1943, and in 1940 it was called phenylketonuria due to the increase of phenylalanine in the blood of these patients. Fortunately, through testing, almost all babies with this condition can be diagnosed and treated at the beginning of birth, in which case they will grow up naturally intelligent.

Dr. Kamali says: Children with PKU are unable to digest and break down the amino acid phenylalanine, which is more or less present in almost all protein foods, due to deficiency or lack of enzymes. Without treating this condition, phenylalanine accumulates in the blood and other tissues of the body, and its volume increases, causing brain damage and mental retardation.

Signs and symptoms of PKU
PKU disease does not have obvious symptoms at birth, and the appearance of the baby is healthy in the first weeks of life, but gradually, symptoms such as delayed growth and development, restlessness, vomiting, skin lesions on the body surface, gray hair without family history, and the unpleasant smell of sweat and urine appear. Over time, the child suffers from mental retardation and is often restless and lively (hyperactive). Also, the child’s speaking, sitting, and walking are disturbed, and these effects may become permanent.

Diagnosis of PKU
Symptoms of P. who U to 5 and 6 months is misleading. For this reason, doctors make mistakes in diagnosis in many cases. The only and best way to diagnose this disease is to measure the blood phenylalanine concentration of babies at birth. This test should be done 3 to 5 days after birth because the delay in diagnosing the disease, from the second week onwards, causes damage to the brain.

What foods should people with PKU not eat?
This disease has no medical treatment. But through a proper diet, the level of “phenylalanine” can be kept at a normal level, and therefore, by early diagnosis of the disease (from the third day of birth) and starting to feed the child with special milks for the serum level of “phenylalanine” in the first 12 years of life, between two and six milligrams per deciliter, and after that, you can treat it up to two to 10 milliliters.