Tehran-Phenylketonuria (PKU) neonates with symptom is initially free, so the first step in treatment of PKU is timely diagnosis and early treatment.
PKU is a rare congenital metabolic disorder, leading to the accumulation of the amino acid phenylalanine in the body fluids and nervous system. Abnormal accumulation of amino acids in a child’s body is dangerous and can lead to several disorders, including mental retardation and some skin problems.
The disease is initially asymptomatic, and most babies with PKU begin to show symptoms after a few months. These include delayed development, reduced growth, lower than normal head size, restlessness, trembling, reduced attention, and mental delays.
Timely diagnosis within the first three weeks of life, and early treatment, can help reduce or prevent these symptoms, especially mental retardation. Proper nutrition plays an important role in managing disease complications.
In Iran, PKU screening is one of the newborn screening programs conducted by the Ministry of Health. Newborns will be tested 3-5 days after birth. Suspicious cases undergo additional testing to check their status. Once a PKU is confirmed, the patient will be referred to the specific hospital where he will be treated, the Ministry of Health’s website reports.
The PKU was discovered in the 1930s. The first treatment for it was developed in the 1950s. This was the start of neonatal screening in the 1960s.
The International PKU Day, led by the European PKU Association and the Allied Disability Association, treated as Phenylketonuria (ESPKU), a patient-led umbrella organization representing the European PKU organization, is June 28th.
This day will serve as a platform for the PKU community to unite, educate and advocate for the public, so that the PKU community can better understand and support PKU individuals.
This year’s theme, Shades of PKU, seeks to highlight the diverse experiences of the people who live with PKU.
The campaign highlights the complex reality of PKUs, not just black and white states, but rather covers a wide range of experience across age, stages of life and regions.
Through this initiative, ESPKU aims to address the unmet needs of those who live with PKU and promote deeper understanding and stimulating positive change.
A major aspect of living with PKU is nutritional management, which affects the quality of life from childhood to adulthood. For many, this journey involves navigating the complexities of medical prescriptions and the social dynamics of food-related gatherings.
Food is deeply embedded in culture and social interactions. For individuals living with PKUs, dietary restrictions can create barriers to fully participate in these shared experiences. A common desire among people living in PKUs is normalizing diet. Healthcare professionals should note that the ability to normalize one’s own diet not only helps this community ease strict dietary restrictions, but also allows them to engage in moments of life without feeling different or isolated.
Rare diseases in Iran
A January report by the Rare Disease Foundation found that five more rare diseases have been identified in the country, with the total number of rare diseases reaching 456.
New identifications of Schwachman Diamond syndrome, progressive muscular atrophy, Mowat Wilson syndrome, leiomyosarcoma, and Melnick Needles syndrome, Mehr’s news agency reported.
Because the incidence of rare diseases is very low, there is one or two people with a particular rare disease in the country. Several rare diseases such as “butterfly skin or EB”, “spinal muscular atrophy (SMA),” metabolic disease, “autism” and “intercultural” are one of the most common cases in the country.
Rare diseases are associated with a high psychological burden on patients, but can also have a significant impact on the patient’s family. In addition to the patient’s health burden, most of these diseases are rarely medicationd.
According to the World Health Organization, rare diseases are often serious, chronic and life-threatening. The European Union definition of rare disease affects less than five in 10,000 people. Approximately 80% of rare diseases are genetic diseases, half of which occur in childhood.
Of the 1,000 population, two suffer from rare diseases, but prevalence is suppressed by changing the culture of people, screening, identifying, identifying births, and raising awareness.
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