Thursday , August 5 2021

Phenylketonuria: Disease that causes almost nothing to eat



Mark and Peter Lavery brothers can imagine the taste of traditional Christmas food.

They never ate roast turkey with delicious ornaments and various desserts.

Because Ireland's Mark (27) and Peter (20) have strange illnesses that can not eat meat, eggs, bread or milk.

They can not eat fish, cheese, milk chocolate, nuts or tofu. Actually, 85 years old% 95% of "normal foods" are prohibited..

"It would be quicker to make a list of foods we can eat," says Actor Mark, who is currently in the TV series. VikingTo BBC journalist Declan Cashin.

Is there a problem? protein

Rare disease

Mark and Peter suffer from phenylketonuria (phenylketonuria, phenylketonuria or PKU). Phenylketonuria is an abnormal metabolic disorder caused by the absence of phenylalanine hydroxylase, an enzyme that breaks down the amino acid phenylalanine found in proteins.

In the face of this deficiency, phenylalanine accumulates in the body Damage to nervous system and brainPotentially leading to learning disabilities and behavior problems.

It is a complex disease that can result in health problems due to limited nutrition of a limited diet even after appropriate treatment.

Without treatment

PKU has no cure. The only solution is to regulate it through a diet that severely limits the protein.

For example, in the case of the Lavery brothers, Mark can eat 8 grams per day, and Peter can eat only 5 grams per day (average adult protein intake is 50 grams per day).

"We consume protein supplements to consume the protein we need every day," says Mark. "People get used to about 100 eggs a day that people do not understand," says Mark.

There is a potential medical breakthrough in the treatment of PKU, a drug called Kuvan, that can increase tolerance to phenylalanine while respecting dietary restrictions.

Twenty to thirty percent of PKU patients respond well to medication, but are not yet widely available in international health systems.

Symptoms of PKU

PKU can be easily detected through a diagnostic test of the newborn through a general metabolism test.

that is 1 out of every 10,000 people This can indicate a disease. However, in the indigenous island of Mark and Peter, more than one in 4,500 babies occurs.

Throughout your lifetime, your baby receives a heel test to check for PKU and other diseases.

If the newborn turns out to be suffering, the diet will start immediately.

The first symptoms of PKU appear after weeks of birth.

these are Elevation of phenylalanine in plasma It is 30 times higher than normal and excretes phenylpyruvate in the urine.

The important thing is that it is found at birth or in the first month of life in order to modify the behavior of eating at the time and has no effect on the development of the child.

If for some reason the PKU is not detected early, vomiting may result in a strange hypersensitivity reaction to the baby's first month of life.

The delay of mental exercise development is noticed in 9 months.

Living with a PKU

Despite the inconvenience of the illness, the Laval brothers do not lose their optimistic attitude.

"We can not be luckier with our parents," Mark tells BBC journalist Cashin.

"My mom is a doctor, and when I found out I had a PKU, she started to find out everything about the disease, for example, when I went to a birthday party, I'm sure we brought our own cake and sweets did."

Peter would like to thank you for bringing your brother back.

"When I was in school because it was harder to get a PKU in my teen years, It is a pleasure to meet someone who has passed away.r At school. I also thought that I was not the only one who ate something else in a large family gathering with him. "

The brothers live together and share kitchen work.

"We have a very strong connection every night, preparing our special bread, eating alternately daily food, eating, and suffering from PKU. I feel that my sister has been disappointed a number of times."



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