TEHRAN –Since newborns with phenylketonuria (PKU) do not initially have any symptoms, the first step in treating PKU is timely diagnosis and early treatment.

PKU is a rare congenital metabolic disorder that results in the accumulation of the amino acid phenylalanine in body fluids and the nervous system. The abnormal accumulation of amino acid in a child’s body is dangerous and can lead to several disorders including mental retardation and some skin problems.

This disease is asymptomatic at first, most babies with PKU start to show symptoms after a few months, these include developmental delays, reduced growth, smaller than normal head size, restlessness, tremors, decreased attention, and mental retardation.

Timely diagnosis, within the first three weeks of life, and early treatment can significantly help mitigate or even prevent these symptoms, particularly mental retardation. Proper nutrition plays a significant role in managing the complications of the disease.

In Iran, PKU screening is one of the newborn screening programs conducted by the health ministry. Newborns are tested three to five days after birth. Suspicious cases will undergo additional testing to confirm their status. Once PKU is confirmed, patients will be referred to particular hospitals to be treated, the health ministry website reported.

PKU was discovered in the 1930s. The initial treatment for it was developed in the 1950s. And newborn screening for it began in the 1960s. 

International PKU Day, led by European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria  (E.S.PKU), a patient-driven umbrella organization representing PKU organizations across Europe, is on June 28. 

The day serves as a platform for the PKU community to unite, educate the public, and advocate for better understanding and support for individuals with PKU. 

This year’s theme, Shades of PKU, seeks to highlight the diverse experiences of people living with PKU.

The campaign underscores the complex reality of PKU, emphasizing that it’s not just a black-and-white condition but encompasses a broad spectrum of experiences across ages, phases of life, and geographies.

Through this initiative, E.S.PKU aims to address the unmet needs of those living with PKU, fostering a deeper understanding and inspiring positive change.

A major aspect of living with PKU is dietary management, which impacts quality of life from childhood through adulthood. For many, the journey involves navigating the complexities of medical formulas and the social dynamics of food-related gatherings.

Food is deeply embedded in culture and social interactions. For individuals living with PKU, dietary restrictions can create barriers to fully participating in these shared experiences. A common desire among those living with PKU is diet normalization. The healthcare professionals note that the ability to normalize one’s diet may not only help this community ease their strict dietary restrictions but also enable them to engage in life’s moments without feeling different or isolated.

Rare diseases in Iran

According to a report by the Rare Disease Foundation in January, five more rare diseases have been identified in the country, bringing the total number of rare diseases reach 456.

Schwachman Diamond Syndrome, Progressive Muscular Atrophy, Mowat Wilson Syndrome, Leiomyosarcoma, and Melnick Needles Syndrome have been newly identified, Mehr news agency reported.

The incidence of rare diseases is so low to the extent that maybe one or two people with a certain rare disease are present in the country. Some rare diseases, such as ‘butterfly skin or EB’, ‘Spinal muscular atrophy (SMA)’, ‘Metabolic diseases’, ‘Autism’, and ‘Dystrophies’ are among the most common cases in the country.

Rare diseases are associated with a high psychological burden for the patient, but they can also have a major impact on a patient’s family. In addition to the health burden on patients, few of these diseases have effective drug treatment available.

According to the World Health Organization, rare diseases are often serious, chronic, and life-threatening. The European Union (EU) definition of a rare disease affects fewer than 5 in 10,000 people. Around 80 percent of rare diseases are genetic disorders, and half of them occur during childhood.

Out of a thousand population, 2 people get a rare disease, while the prevalence can be curbed by changing people’s culture, screening, identifying, preventing births, and raising awareness.

MT/MG