by Vina G. Mendoza
The UP Manila National Institutes of Health (NIH), in partnership with the UP Philippine General Hospital and the UP College of Medicine, conducted Webinar #275 titled “Rare Disease: Safe ba ang Anak Ko?”
The session featured Dr. Ebner Bon G. Maceda who discussed the importance of early diagnosis and management of rare diseases, such as Maple Syrup Urine Disease (MSUD), Pompe Disease, and Osteogenesis Imperfecta (OI).
Held on February 27, 2026, the webinar aimed to raise awareness about rare diseases, particularly those affecting children, and highlighted the crucial role of newborn screening in improving health outcomes and quality of life.
In the Philippines, rare disease is a condition affecting approximately 1 in 20,000 individuals. Many of these diseases are chronic, progressive, and genetic in nature, with around 75% affecting children.
Among the conditions discussed was Maple Syrup Urine Disease (MSUD), an inborn error of metabolism in which the body is unable to properly break down certain amino acids – leucine, isoleucine, and valine. The accumulation of these substances can become toxic and lead to serious complications if left untreated. Early symptoms may include poor feeding, irritability, and a characteristic sweet odor in the urine.
Although considered rare worldwide, MSUD is recognized as the most common inborn error of metabolism in the Philippines, with an estimated prevalence of 1 in every 71,932 births. Dr. Maceda emphasized that prompt diagnosis through newborn screening is essential to prevent irreversible complications. Management includes the use of specialized branched-chain amino acid (BCAA)-free formula and a carefully monitored low-protein diet.
The webinar also covered Pompe Disease, a rare lysosomal storage disorder caused by a genetic enzyme deficiency that affects the muscles, heart, and respiratory system. Another condition discussed was Osteogenesis Imperfecta (OI), commonly known as brittle bone disease, a genetic disorder characterized by fragile bones that fracture easily.
Throughout the session, Dr. Maceda stressed the life-saving impact of
newborn screening. Detecting these conditions within the first few days of life allows timely intervention and treatment, significantly reducing the risk of permanent disability and improving long-term outcomes for affected children.
The webinar formed part of the continuing public health education efforts of the UP Manila NIH and its partner institutions to strengthen awareness and advocacy for rare diseases and newborn screening in the Philippines.
The session may be accessed through TVUP on YouTube: https://www.facebook.com/share/p/1DYV7N8fwb/
