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metabolic disorder
Gaucher disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme Glucocerebrosidase. This enzyme is crucial for breaking down a fatty substance called Glucocerebroside.
Maple Syrup Urine Disease
Maple syrup urine disease (MSUD), also known as branched-chain ketoaciduria, is a rare and inherited metabolic disorder that affects the breakdown of certain amino acids in the body. This condition…