In addition, the lack of tyrosine (normally derived from the conversion of phenylalanine) also compromises the production of key neurotransmitters such as the Dopamine, norepinephrine and serotonin.
Early diagnosis saves lives
The screening must be done between 36 and 72 hours of birth, since taking the sample early can give false negatives. The same can happen if the sample is poorly taken or if the child is born at home and the test is not performed in a timely manner. It is essential that the sample be taken when the metabolism of the newborn is active, thus allowing abnormal levels of phenylalanine.
A recent study shows that for every week delay in the start of treatment, up to 4 points of intellectual coefficient can be lost. That is why it is vital Start treatment as soon as possible. After that window, the damage can become irreversible.
Patients with correctly diagnosed PKU and treated can study, work and form a family. However, a failure in early detection or treatment can condemn a person to live with severe disabilities, with a devastating impact for the patient, his family and the health system. An exemplary case evidence that a bad sample taken at birth resulted in a late diagnosis, with irreversible brain damage. That child could have had a completely normal life if he had acted on time.
How is the treatment
Ana Chiesa, a pediatrician and endocrinologist MN 58207 indicated that “the PKU has no cure, but it does have treatment. And if you start time, it allows the person to develop a totally normal life. The treatment is based on three fundamental pillars: 1) strict and controlled diet in phenylalanine, limiting the intake of natural proteins indicated in amounts set individually; 2) Special formulas that provide essential amino acids without phenylalanine and 3) low foods in phenylalanine, necessary to maintain a balanced and safe diet.
These formulas must be consumed up to 4 times a day, for life, and are designed to ensure the growth and development of the patient. Even so, accessing low foods in Phenylalanine is usually difficult, with insufficient coverage by social works and prepaid.
The specialist Chiesa explained that “not all affected people have the same degree of alteration. There are more mild and more severe forms. This variability depends on how functional the liver enzyme is responsible for transforming phenylalanine into tyrosine. From individuals whose” metabolic cuisine “is completely inactive to those who have a partial functioning, the tolerance to proteins varies and therefore the treatment must be customized.”
Since their daily and professional commitment, Chiesa says: “A society that decides to look for those born with a treatable condition like PKU, has the obligation to always accompany them. It is not just about giving a laboratory result, but also guaranteeing life, dignity and opportunity.”
Live with PKU: the case of Nuria Ortega
When Nuria Ortega gave birth to her first daughter, she did not imagine that a few drops of blood taken at the clinic would turn their mental map of motherhood. “I had read everything about childbirth and breastfeeding, but I had no idea what neonatal investigation was,” he recalls. Five days after birth, a call he did not expect announced that his baby could have phenylcetonuria, better known as PKU.
The diagnosis was confirmed the following Monday. Thus a new path began: being a mother in a world that seemed completely alien. “I didn’t know where they called me, or what they were telling me. It was a bucket of cold water,” he summarized. But that first impact, as she explains herself, gave way to action.
Its history is the story of a daily construction, of informed resilience. Nuria does not stop in what is missing but in what works. And his look, firm but empathetic, can be the company that many families need when receiving that diagnosis that, at first, seems unabordable. “You can live with PKU. With organization, with community, and with a lot of love, you can live very well.”
The strict diet as treatment
The treatment of PKU consists mainly of a strict and controlled diet that limits phenylalanine. To meet nutritional needs, special formulas are used that do not contain this amino acid, but the others necessary for healthy growth. Over the years, low protein foods and digital applications have been developed that allow families to calculate and register with precision what children consume.
PKU: A hereditary disease
The PKU is of autosomal recessive inheritance. For a baby to be born with the disease, both parents must be carriers of the mutated gene. In the southern cone, the prevalence is relatively high. One in 15,000 newborns can be affected. This includes both the most severe (classic) forms and the slightest of the disease. It also clarifies that this frequency is similar to that of countries such as Spain, Italy, the United States and Chile. “Half are mild forms that do not need so much diet, and the other half does require intervention,” Chiesa said.
Life tracking
Chiesa says it is important to underline that treatment does not end in childhood. “Adolescence and adulthood require continuity in metabolic control to ensure a good quality of life, avoid cognitive, emotional or reproductive disorders, and allow full development. Women with mild forms must also be controlled during pregnancy, since high levels of phenylalanine can seriously affect the baby,” he explains.
The treatment and monitoring of phenylcetonuria requires a highly specialized interdisciplinary team that not only occupies the diagnosis and medical treatment, but also of the integral accompaniment of the patient and his family throughout life. Among the professionals who integrate it are MEDICOS specialists like Pediatric and clinical endocrinologists: lead the diagnosis, interpretation of analysis, therapeutic decision making and the general monitoring of the clinical state; Neurologists: They evaluate neurological development, especially in patients who present or have presented cognitive or behavioral symptoms and general pediatricians (in early follow -up): accompany the basic controls of child development.
Nutritionists are key. They are fundamental in the treatment of PKU, since they design, adapt and supervise custom hypoproteic mets. They teach families to calculate the consumption of phenylalanine and make use of digital applications for daily control. They are responsible for the evaluation of the growth, nutritional status and evolution of the patient depending on the diet. The P are also partpsychologists and psychopedagogues that emotionally accompany the patient and their family environment, especially at sensitive times such as diagnosis, adolescence or pregnancy.
PKU and weight control
Dr. Chiesa clarified that PKU itself does not predispose to obesity, and that there is no general overweight trend in these patients, despite the fact that their treatment implies specific food restrictions. What can happen is that some boys who receive special foods such as cookies and hypoproteic noodles can gain weight if those foods move the consumption of fruits and vegetables. In contexts where access to healthy foods is limited, excessive consumption of hypoproteic processed products can influence weight.
In this case, here is a clear response of the team that is weight control is done on each visit. In general, the population with well treated PKU does not present a higher prevalence of obesity than the general population.
Neurological symptoms
The specialist Chiesa explained that “the neurological symptoms of the unreasonable PKU may resemble those of autism, and in many cases, children with lately diagnosed PKU have been erroneously considered autistic. This is due to compatible symptoms such as repetitive behaviors, absence of language,” rocking “(repetitive balance), lack of visual contact or emotional response. Clarify- Many of these symptoms disappear with treatment, especially if not too much time. And he stressed that “every child with a diagnosis of autism should be evaluated with metabolic studies, since PKU is one of the treatable causes of Secondary autism”
Organization, information and new daily life
From detection, family routine revolves around a clear axis: controlled feeding, supplementation and daily organization. “The key is to have behavior. It is not optional. It is a priority that battles every day,” says Nuria Ortega. She uses a specific application called “my PKU”, which allows her to calculate the protein that each food contains according to the weight. His daughter, with moderate diagnosis, can tolerate around 7 grams of daily protein. That requires that each meal be thought accurately. “I put several options in case you reject any. I always have a B Plan.”
Socialize with a little visible condition
His daughter already goes to the garden and that brought new challenges: how to explain that he cannot share the food, that he carries his tupper with every heavy and measured, which is not capricious or “the poor thing.” “We send fruit so that I can share something with their teammates. And when there is birthdays, they already know that you can’t eat cake,” he says.
That naturalization of his condition in the school environment was also sown with work. For this year’s birthday, while waiting for the birth of his second daughter, Nuria prepared an explanatory poster so that the other families understand what the PKU is and why her daughter has a different diet. “It is not a choice. It is your reality. And it is great to be able to explain it clearly, without drama.”
The network that is built
On the tour, Nuria met other families. “After months, I met a mother with old children with PKU. I bombard her questions. Now I am in a group with more than 30 families in the country,” he says. In that space, recipes, products, brands and experiences are shared. “I feel comfortable accompanying the everyday. My is the daily practice and it is important that other families know that you can live well and rely on a network is important.”
The role of the health system
As with many rare diseases, the path with the health system was not simple. “The supplement took three months to arrive. During that time, the Foundation (Fei) helped us. But it shouldn’t be so,” he denounces. The social work requested a bulky payment to add their daughter to coverage, and to get special foods they had to resort to an appeal for amparo. “The final sentence is not yet, but we are solving.”
To detect phenylcetonuria (PKU) there is a study between 36 and 72 hours of newborn life. If not being treated in time, it can cause mental retardation, cognitive deficit, behavioral problems, seizures and abnormal movements, among other consequences.
Source: Ambito
I am an author and journalist who has worked in the entertainment industry for over a decade. I currently work as a news editor at a major news website, and my focus is on covering the latest trends in entertainment. I also write occasional pieces for other outlets, and have authored two books about the entertainment industry.
