Maple diabetes

Maple syrup urine disease (maple syrup urine disease) is a hereditary branched-chain amino acid (valine, leucine, isoleucine) congenital metabolic disorder due to the branching Chain alpha; ketoacid dehydrogenase (BCKD) multiple enzyme complex is defective. The cause of this enzyme complex defect is a mutation in a gene encoding a component of the enzyme complex. Branched chain amino acids cannot be synthesized in the human body and are mainly taken from the diet. Branched chain amino acids can be used as a component of protein synthesis, or they can be metabolized to produce energy. Leucine, isoleucine, and valine produce alpha; -ketoisoacetic acid, alpha; -keto-1-methylvaleric acid, and alpha; -ketoisovalerate, respectively, during the catabolic process. The further metabolism of these three keto acids requires the participation of BCKD complexes. If BCKD activity is deficient, not only will these three keto acids accumulate in the body; it will also increase the concentration of three branched chain amino acids in the blood. Three keto acids are toxic to the human nervous system, and it is precisely because of their toxic effects that they cause maple diabetes. These 3 kinds of keto acids are excreted from the urine, giving the urine a sweet smell of maple syrup, hence the name.