- Phenylketonuria can be detected through neonatal screening and treated immediately.
- A restrictive diet of foods high in protein is essential to control the toxic effects caused by the disease.
- Although there is no cure, there is currently a pharmacological treatment and other enzyme replacement therapies are being studied.
The phenylketonuria It is a rare condition capable of causing neurological and motor damage in newborns. In Mexico, it is estimated that for every 100,000 live births there are 3.6 cases of this disease that, if not detected in time, can cause neuronal inflammation and irreversible damage to the child’s neurodevelopment.
For the above, Every June 28 marks World Phenylketonuria or PKU Day. (for its acronym in English). During this date, various medical organizations make efforts to raise awareness among health professionals and parents to recognize the main signs and symptoms in newborns and promote neonatal screening, which is the main tool for early detection.
According to Dr. Marcela Vela Amieva, head of the Laboratory of Metabolism and Sieve Errors of the National institute of pediatrics (INP), the phenylketonuria it’s a metabolic disease which is inherited from both parents through an error in the gene that codes for the enzyme phenylalanine hydroxylase. This failure causes a toxic accumulation of this enzyme to occur when products of animal origin are ingested and consequently causes severe and irreversible brain and motor damage if it is not identified and treated in time.
First manifestations and suspicious signs
This condition can manifest itself as early as three months of life when observing that babies do not hold their heads, are indifferent to the environment that surrounds them, do not smile, are easily irritated, and may even have a lighter skin tone and eyes than that of babies. parents or siblings, in addition to presenting a visible redness on the cheeks.
According to the specialist, among the strict care that these patients require is to maintain for life a restrictive diet of foods with high protein content such as dairy products, meat, eggs, nuts, soybeans, among others, since they contain phenylalanine in great proportion.
Disease without cure but with medical treatments
Although there is currently no cure for phenylketonuria (PKU), there are treatments that help improve the functioning of the enzyme phenylalanine hydroxylase. This favors the metabolism of phenylalanine and tyrosine, which keeps their levels low and allows a slightly more varied diet in patients, as well as reducing health risks.
Currently there are studies of new enzyme replacement therapies in some developed countries, which could help the patient completely abandon the restrictive diet, considerably improving their quality of life.
Metabolic diseases have a radical impact on the health of those who suffer from them, for this reason early detection tools have been developed, such as Neonatal sieve that identifies in the first weeks of life the presence of devastating diseases such as phenylketonuria.
In our country there are still cases in which newborns are not subjected to a neonatal screening due to uses and customs, lack of access to health services at the time of giving birth, little follow-up of the mother and the newborn, among other causes. . In these cases, doctors and parents are the ones who can observe the symptoms to suspect and obtain a diagnosis, since it can often be confused with autism.
Dr. Vela Amieva makes a call to sensitize parents to carry out neonatal screening and learn about the normal development of their children to detect any irregularity. As for physicians, they are invited to consider the possibility of phenylketonuria by observing these symptoms in unscreened children, in order to have a timely diagnosis and immediate treatment that can change the patient’s life.