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This Concept Map, created with IHMC CmapTools, has information related to: TL2. AA Metabolism Defects, Isovaleryl CoA Dehydrogenase defect leads to Isovaleric Acidemia, Dissulfide 90% used in Total homocysteine, Homogentisic acid oxidase activity Encoded by Gene 3q21-23, Alkaptonuria defect in Homogentisic acid oxidase activity, moment to moment from Dihydro biopterin, AA METABOLISM DISORDERS classifications Homocystinuria, Serine to Cystine, Homogentisic acid oxidase activity eventually leads to Degeneritive arthritis, Tetrahydrobiopterin insufficiency leads to Impaired synthesis of biogenic amines, Autosomal recessive Screened Mostly by checking PHE, VAL are Transaminated, Catalyzes decarboxylation of a-ketoacid derives of branched AA ie. LEU, Tetrahydrobiopterin regenerated moment to moment, Thiamine Pyrophosphate treatment Can be given Thiamine to help disease, Homocystinuria defect involves Homocystine, Free Sufhydryl used in Total homocysteine, Isovaleric Acidemia phenotype Vomiting, Occurs in mitochondria but coded for by nucleus DNA, Homocystine fate Transsulfuration, AA METABOLISM DISORDERS classifications Hyperphenyalaninemias