Every month a baby is born in Israel with this disease.
This is what you need to know about her
Every parent is familiar with the test in which blood is taken from the newborn baby from the heel.
This test is designed to diagnose metabolic diseases.
One of them is phenylketanuria, in which patients cannot consume protein at all.
Here are all the details
Dr. Josh Manor
29/06/2022
Wednesday, 29 June 2022, 07:22 Updated: 08:03
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Protein can cause these children irreversible damage.
Child eats avocado (Photo: ShutterStock)
You must have heard about a low fat diet and a low carb diet.
But have you heard of a protein-free diet?
There are those for whom it is not just a matter of weight, but really a matter of life and death.
This month marks a day of awareness in Israel and around the world of
Phenylketonuria,
or PKU for short.
It is a rare inherited disorder that causes an increase in an amino acid called phenylalanine in the blood.
Phenylalanine is found in all proteins (meat, nuts, beans, milk, etc.) and in the artificial sweetener aspartame (diet drinks and artificial sweeteners).
The main problem in PKU patients is that the breakdown of phenylalanine does not work properly and its accumulation can cause irreversible damage to the nervous system.
The prevalence of PKU in Israel is 1: 10,000, similar to European and American countries.
Every month, on average, a baby is born with PKU in Israel.
Most often, the disease is manifested when the baby inherits the disease from two healthy parents who are carriers of it.
It is therefore of great importance to have a genetic test before pregnancy in cases where one of the spouses or one of his family members is ill.
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How is PKU diagnosed?
Diagnosis of PKU is made as part of the neonatal survey.
The same test in which the heel of every newborn baby is stabbed actually began with the detection of PKU in the 1960s in the USA.
Since then, with the technological improvements of the 21st century, we use the same blood drops to detect dozens of diseases. Their early detection, before the onset of symptoms, can save lives.PKU disease is a prime example of this; instead of waiting for symptoms, some of which will no longer be reversible, we "pre-perceive" the disease and begin treatment in the first month of life.Many studies have shown That treatment given in the first weeks of life can lead to a completely normal development of the patient.
The disease is detected by a newborn screening test.
Doctor examining baby (Photo: ShutterStock)
What are the symptoms of the disease?
Symptoms of the disease include cognitive, behavioral, and developmental disorders.
A change in the pigment in the hair and eyes comes only in the late and irreversible stage of the disease.
Other than that, there is no external symptom that can be identified and the diagnosis of PKU relies as stated on the examination of the infants before any concern arises.
Coping and support
As a physician of metabolic diseases, one of my important roles is accompanying parents.
Imagine the feeling that comes, after you finally get home after the birth, after the jaundice test, after the initial vaccination, after the hearing test, after the hospital hardships, you found formula, breastfeeding, diapers, car seat, stroller, playpen and baby carrier, and after all it comes Do you have a phone call from the Ministry of Health that has a suspicion of a disease that you have never heard of and you are not even able to pronounce its name?
Moreover, parents then search for it on Google and go into even more startup.
And all this on suspicion that arises from the neonatal survey, even before the diagnosis is confirmed.
For this the state has established one center, which coordinates the treatment of this disease.
The center has a wonderful staff consisting of doctors and assistance staff who give holistic treatment to patients and help them and families deal with the diagnosis, its consequences, and provide social support that includes, among other things, exercising rights with the funds and social security.
It is difficult to exaggerate the help of this center in the parents' coping with the diagnosis.
What is the treatment for the disease?
The idea is quite simple - lower the phenylalanine levels to the minimum needed by the body.
The problem is that even those of us who consume little protein, as well as vegetarians and vegans, still consume an amount of protein that is much higher than this minimum.
Naturally the body has no problem breaking down the excess, but in PKU there is no such way.
Such a diet is not easy at all.
This is a significant reduction, beyond the cessation of eating meat, and the menu is determined in consultation with a qualified dietitian.
Try one day to abstain from protein - each dish will check its nutritional value - and you will be surprised to find out how much protein there is in pasta and bread, dairy delicacies, chickpeas, peas and beans.
Recently food companies have invested more resources and more common phenylalanine bucket substitutes including phenylalanine-free protein powders which come in more varied, and tastier forms.
In the not too distant past I treated a man with PKU who was a bodybuilder and found a way to enrich his diet with protein powders without phenylalanine.
Over the years, additional therapies have been added that aim to help the body specifically break down the amino acid phenylalanine.
For a large proportion of patients, but not for all, there is a drug that helps the body break down more phenylalanine.
In addition, an enzyme that comes from bacteria and breaks down phenylalanine into a product that is excreted in the urine has recently come into use in the United States. All of these will help patients expand the range of foods they are allowed to eat. Bring about even more effective therapies that include genetic healing or mRNA-based healing (as in corona vaccines), and I anticipate that in the not-too-distant future we will be able to provide more effective therapies that will help loosen the reins around reducing protein intake for patients
. H. Sheba
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protein
Children
metabolism