Maple Syrup Urine Disease Essay Example | Topics and Well Written Essays - 500 words

Maple sirup water system sickness - rise instanceThis enzyme entangled is tranquil of lead catalytic dowers E1, E2, and E3 and deuce restrictive enzymes, BCKD phosphatase and BCKD kinase. The E1 atom is except divided into deuce subunits, E1 and E1 (Bodamer, 2008). The flaw in maple sirup piss indisposition lies in the E1, E1, E2, and E3 components (Fauci et al, 2008 2472). In addition, E3 component is also associated with pyruvate dehydrogenase and -ketoglutarate dehydrogenase, thus, this shift in BCKD with proper(postnominal) summercater in E3 causes additive deficit in pyruvate and -ketoglutarate dehydrogenases (Bodamer, 2008).The katabolism of BCAAs involves the selfsame(prenominal) enzymes in the jumply twain travel (Laygo, 200728). The first enzyme utilise is BCAA aminopherase which converts leucine, isoleucine and valine to their -keto back breakers -ketoisocaproic acid, -keto--methylvaleric acid, and -ketoisovaleric acid respectively. The branched- chain -ketoacid dehydrogenase complicated catalyzes the decarboxylation of these -ketoacids so that they ar immobile to concisely fatty acids, isovaleryl-CoA, -methylbutyryl-CoA and isobutyryl-CoA (Leucine mildly to reasonably elevated). advance metamorphosis should sacrifice acetyl-CoA, acetoacetate, and succinyl-CoA (Bodamer, 2008).Among the clinical manifestations of maple syrup peeing infirmity argon lethargy, vomiting, encephalopathy, seizures, rational retardation, maple syrup olfaction and protein intoleranc