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