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Tyr+metabolism+annotated - -black urine COO-NH2 Tyr COO-NH2...

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JLMarsh 9/96 PAH Phenylalanine hydroxylase, Liver only! PKU= BH4, tetrahydro biopterin O 2 + Phe BH2 H O 2 dihydrobiopterin reductase DHPR (near Huntingtons) Mutants = 0.8% of all PKUs 6-pyruvoyl tetrahydro pterin = 6PT 6PT Synthetase DHNP GTP GTP-CH, GTP cyclo hydrolase PKU Almost no other fate of phe -Get buildup of phe & lack of Tyr -Feed low phe, hi tyr diet then ok til development has proceeded -Note a normal female protects the fetus otherwise it probably wouldn't live -But a normal fetus in affected mother is at risk. Malignant Hyperphenylalaninemias -affect homeostasis of BH4 -BH4 used by phe & tyr->dopa & trp -> 5HT -Get deficient neurotransmitter as well as PKU tyrosine transaminase -tyrosinosis (Richner- Hanhart syndrome) pOH PP oxidase + vit C -tyrosinosis -scurvy Homogenistic acid oxidase -Alkaptonuria
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Unformatted text preview: -black urine COO-NH2 Tyr COO-NH2 OH Dopa dopa quinone-melanin Albino II, incomplete COO-NH 2 OH OH Dopamine pOH phenyl pyruvate COO-OH O TH-tyrosine hydroxylase I-IV intracellular 11p15 Tyrosinase I-V secreted Albino I 11q14 BH4 used by PAH, TH; TrpOH Autosomal Dominant Segawa's syndrome = GTPcycloHydrolase mutant. Diurnal paralysis. Fine in am, in wheel chair by night. Depletion of Dopa dopa decarboxylase Ddc- recently discovered nor-epinepherine DBH dopamine ß hydroxylase Orthostatic syndrome epinepherine COO-NH2 OH OH PNMT NH 2 OH OH OH MAO, monoamine oxidase violence disorder COMT catechol-O-methyl transferase degrade Homogenistic acid COO-OH OH maleylaceto acetate COO-O O COO-Hydrolase Acetoacetate & fumarate the syndrome...
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