Adnkronos (Adnkronos) – "Newborn screening plays a crucial role in phenylketonuria because it allows for diagnosis of the disease before symptoms appear and therefore early intervention. Unfortunately, or fortunately, depending on how you look at the disease, symptoms don't appear early and aren't present at birth. Phenylalanine accumulation in the body takes months to cause the first neurological signs, so much so that neurological disability generally appears after the first year of life."
Alberto Burlina, senior researcher at the University of Padua, told Adnkronos Salute this during a media conference dedicated to the rare disease in Rome today.
This is the fundamental role of screening: preventing the onset of symptoms well in advance. Before its introduction, this didn't happen, resulting in severe intellectual and neurological disabilities.
Today, however, screening allows us to avoid neurological damage. It is one of the great successes of preventive medicine," he adds.
When the disease is undiagnosed, symptoms can be complex and nonspecific. "They include neurological disability, mental retardation, intellectual developmental delay, and psychomotor retardation. They are therefore not easily distinguishable from other conditions," Burlina emphasizes, "for example, from damage caused during birth."
According to the expert, "there is also a particular characteristic of phenylketonuria: excess phenylalanine can cause a characteristic odor, similar to that of rotten cabbage, especially noticeable in sweat and on the skin. It's an odor that doctors who have had the opportunity to treat these patients can recognize, but of course, it alone isn't sufficient to reach a diagnosis."
Today, thanks to neonatal screening, "cases of phenylketonuria diagnosed after the onset of symptoms have become extremely rare. We have almost eradicated this type of situation and are very close, in some respects, to what happened with vaccinations." According to Burlina, however, it would be important "to have a national phenylketonuria registry, which would allow for more complete data on the spread of the disease and patient histories."
Another key aspect of managing phenylketonuria is diet. "Diet is very important. The disease is caused by an excess of the amino acid phenylalanine, and therefore it is necessary to limit foods that contain high amounts of it. In particular," the researcher recommends, "almost all foods containing protein, especially meat, fish, and eggs, should be reduced." This does not mean, however, eliminating protein from the diet. "You can't live without protein, but we have phenylalanine-free amino acid substitutes and blends available, which can be added to pasta or other foods. This way, we can ensure a normal protein intake without introducing excessive phenylalanine." The result is that, with proper nutrition, "these patients can grow normally."
The situation is different when the diagnosis arrives late and neurological damage has already set in. "If the disease isn't diagnosed early, diet helps control phenylalanine levels, but it can't reverse the neurological damage already caused. Treatment, in any case," he warns, "must be followed throughout life. There are no particular limits to life expectancy. There are patients in their 70s and 80s who can do everything: study, work, and live a full life. This, when I spoke of a great medical success, is exactly what I meant: with the treatments available today, there are no particular restrictions," he concludes.
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