メープルシロップ
Maple syrup urine disease is an “autosomal recessive inborn error of metabolism. Meaning, as stated earlier, that there is a defect (i.e. error) in the single gene that codes for an enzyme. These enzymes promote conversions for various substrates into products. In terms of maple syrup urine disease, the enzyme defect occurs in the metabolic pathway of the “branched-chain amino acids” leucine, isoleucine, and valine. The buildup of these amino acids lead to “encephalopathy and progressive neurodegeneration”; along with other complications.