Maple Syrup Urine Disease: A Comprehensive Guide
Understanding the Genetic Roots The Genetic Basis At the heart of Maple Syrup Urine Disease lies a genetic anomaly. The disorder stems from mutations within specific genes responsible for the breakdown of branched-chain amino acids (BCAAs). These essential amino acids – leucine, isoleucine, and valine – are critical for various bodily functions, including muscle development … Read more