A rare genetic disorder
Scientists have developed a new gene therapy for Maple Syrup Urine Disease (MSUD), a rare genetic disorder. MSUD is caused by a deficiency of the enzyme complex needed to break down branched-chain amino acids (BCAAs) like leucine, isoleucine, and valine. It is inherited in an autosomal recessive pattern, requiring both parents to pass on the gene mutation. The disorder prevents proper amino acid metabolism, leading to neurological symptoms and life-threatening brain damage.
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