An 8-year-old boy, wheelchair-bound due to a rare genetic disease, HPDL deficiency, regained his mobility through an experimental drug, 4-HB. This groundbreaking treatment, bypassing the CoQ10 deficiency, restored his ability to walk and engage in activities like hiking and go-karting. This extraordinary case, the first human success for HPDL deficiency, signals a monumental shift in rare disease therapy, transforming despair into hope. It not only redefines treatment for HPDL deficiency but also shines a beacon of hope for rare mitochondrial diseases everywhere.

Source: The Times of India - July 11, 2025