Life without protein
Shortly after her second son was born, Sagit Adoni-Rotenberg learned he has phenylketonuria, known as PKU.
“I didn’t understand what had hit me,” she says. “It was during a holiday and there wasn’t any doctor around who could explain the disease to me. On the Internet all they wrote about was the final result – severe mental retardation. Nowhere did it say that if we scrupulously stuck to a strict diet the child would be just fine.”
Since then she has learned about the disorder and the reasons for it, and she has adapted the family’s way of life to the prevention of the severe effects of the disease. “The boy goes to a regular kindergarten but he doesn’t eat like all the other children,” Adoni-Rotenberg says. “At the start of every school year I explain thoroughly to the teachers and the other parents what it is about. When he goes to friends’ houses, he takes along a special snack of his own. I don’t hide food from him. He himself is able to tell the kindergarten teachers what is permissible for him to eat and what isn’t. And yet, he’s a little boy and there are crises. His diet is very meager and that’s frustrating. The prices of the special products, which are imported from abroad, are astronomical and there isn’t any subsidy for this food.”
Like other sufferers from the rare disorder, Adoni-Rotenberg’s son is restricted from protein, which doesn’t get broken down correctly, and instead must keep to eating only carbohydrates and a few fruits and vegetables.
He also drinks a beverage based on a special formula in which the protein is already broken down.
PKU is a very rare recessive genetic metabolic disorder, which is present in approximately one out of every 13,000 births here.
Sufferers from the disorder have a deficiency in the functioning of the phenylalanine hydroxylase enzyme, or PAH, which is responsible for breaking down the amino acid phenylalanine and converting it into the amino acid tyrosine. Without the enzyme, the breakdown does not occur.
Thus an imbalance develops between the levels of the two amino acids in the body – low tyrosine levels and phenylalanine levels 20 to 30 times what is desirable. The accumulation of phenylalanine in the brain over time can cause problems with concentration and memory and a significant decline in intelligence to the point of severe mental retardation.
A defiency in tyrosine, which is involved in the building of substances that aid the transmission of information in the brain, can also cause brain damage.
Another characteristic of PKU sufferers is pale skin, pale hair and pale eyes because tyrosine is an amino acid that turns into the pigment melanin.
In addition, the products of the breakdown (metabolites ) of excess phenylalanine are excreted in urine and perspiration and therefore sufferers have a very unpleasant body odor.
“The treatment of the disorder is based on a very strict diet, says Dr. Gerard Schwarz, head of the PKU clinic at Sheba Medical center, Tel Hashomer. “It is necessary to reduce to a minimum the amount of phenylalanine the child receives – only the amount necessary to build the body, no more and no less. It is essential to integrate proteins into this diet because if the child does not receive proteins he will suffer from developmental deficits, some of them dangerous.”
For the PKU sufferers’ diet, a special milk formula is produced, rich in protein but without phenylalanine and with added tyrosine. An infant receives this milk along with breast milk. At a later age, too, this formula is a very significant part of the PKU sufferer’s diet.
According to Schwarz, the diet regiment for PKU is perhaps the strictest there is. “In Israel the products suited to the disorder are very rare and therefore the children must make do with little,” he adds. “Most Western countries subsidize some of the food for these children but in Israel the state participates only in the cost of the formula. When the sick children are small, they have to be supervised all the time so they don’t steal forbidden foods. This is not an allergy, in which if a child eats something forbidden the results are obvious immediately. Here the damage is over time and therefore the impression might be formed that nothing has happened. But the danger is real. For that same reason it is also harder to explain to others.”
If the patients – or their parents – are strict about the diet, they can avoid developmental problems. Over the years it is possible to relax the restrictions a bit, in accordance with the patient’s condition. There are even patients who are able to transition to regular nutrition after a number of years. Other patients have to keep to the strict dietary regiment all their lives.
Women with PKU who want to have children must return to the strictest form of diet during pregnancy and even during the planning stage for a pregnancy in order to prevent irreversible damage to the fetus.
Currently in Israel there are 350 children with PKU, who are in treatment and under observation at Tel Hashomer, says Schwarz.
According to him, “This is a genetic disorder but it is not included in the pre-natal tests because the gene responsible for it has many mutations and it is difficult to find them. However, if it is known there is a case of PKU in the family it is possible to do a CVS (chorionic villus sampling ) test during the pregnancy and discover the presence of the gene.” Creative cookery
Sharon Harel, 38, was born at the time when the PKU screening test was introduced for all newborns in Israel. “When I was born they told my parents I was retarded,” she says. “Only later did they identify the disease and tell the how to take care of me. They didn’t know much about the disorder at that time.”
Ever since she can remember, Harel has observed a strict diet. “My mother learned to cook very creatively with the few things I am allowed to eat,” she says.
Harel reads the nutritional information on every product and from an early age she has known how to calculate the amount of phenylalanine there is in every food, according to how much protein there is in it. “Even a tiny bit of a forbidden food can make the phenylalanine level in the body soar and it takes about two weeks to repair the damage,” she says.
As a mother of two, she very much feared her condition would endanger her children. “I have to plan pregnancies and stick to a strict diet for two months beforehand,” she says.
Her fears let up a bit when her first son was born, a healthy child who is developing normally.
A medication developed recently, KUVAN, is aimed at filling the role of the damaged enzyme or improving it action, thereby helping the breakdown of phenylalanine to tyrosine. Studies have shown use of the medication decreases phenylalanine levels in the body by about 30 percent. This medication is not yet included in government health subsidies and it is suited to about 30 percent of PKU patients.
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