Doha, January 05 (QNA): Sidra Medicine has announced a significant medical achievement by facilitating access to sepiapterin for patients with Phenylketonuria (PKU), making Qatar the third country in the world—after Germany and the United States—to offer this treatment through approved and regulated clinical and governance pathways. The milestone follows the successful administration of sepiapterin to a 12-year-old Qatari girl diagnosed with PKU, a rare inherited metabolic disorder that affects the body’s ability to break down the amino acid phenylalanine.

PKU affects approximately one in 23,930 newborns globally, with higher prevalence reported in parts of Europe and the Middle East. Traditionally, patients diagnosed with the condition are required to adhere to a lifelong low-phenylalanine diet supported by specialized nutritional supplements. Without proper management, elevated phenylalanine levels can become toxic to the brain, leading to serious neurological complications such as developmental delays, seizures, behavioral issues, and learning difficulties.

Prof. Tawfeg Ben-Omran, Division Chief of Genetics and Genomic Medicine at Sidra Medicine, described the development as a transformative step in metabolic care, noting that sepiapterin has the potential to significantly reduce the lifelong burden of strict dietary therapy and improve patients’ quality of life. The achievement also marks a key milestone for Sidra Medicine’s Gene Therapy Center, launched in January 2025, which continues to strengthen Qatar’s position as a regional hub for advanced, regulated therapies for rare and complex genetic disorders, according to Chair of Pediatric Medicine Dr. Ahmed Al Hammadi.

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