Enzymes and enzyme inhibitors in Diagnosis and Therapy Dr Phaedra Eleftheriou Department of Medical Laboratory Studies http://www.MedLabstudies.webs.com School of Health and Medical Care Alexander Technological Educational Institute of Thessaloniki, Greece
Enzymes: � catalyze all reaction in human body carbohydrates C C Η Η 2 OH 2 OH Enzyme Η Η Ο Ο Η Η Η Η Η Η OH OH OH OH OH OH triglycerides Η Η OH OH proteins glucose Deficiency/ Disease aminoacids glycerol glycolytic Overactivation cycle Fatty acids NH 3 Carbon pyrouvate backbone CH 3 CO-S-CoA urea Krebs cycle Increased Tissue lesions Respiratory Tissue lesions Serum chain Oxydative Disease phosphorylation Enzyme Enzyme ΑΤΡ Enzyme concentration energy overexpression overexpression Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: � catalyze all reaction in human body carbohydrates C C Η Η 2 OH 2 OH Enzyme Η Η Ο Ο Η Η Η Η Η Η OH OH OH OH OH OH triglycerides Η Η OH OH proteins glucose Deficiency / Disease aminoacids glycerol glycolytic Overactivation cycle Fatty acids NH 3 Carbon pyrouvate backbone CH 3 CO-S-CoA urea Increase of intermediate metabolite Krebs cycle Decrease in final product Respiratory chain Undesired side products Oxidative phosphorylation and effects ΑΤΡ energy Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: pentose � catalyze all reaction in human body Phosphogluconate Enzyme Enzyme Disease (pentose phosphate) Deficiency Deficiency pathway phosphogluconate Hemolysis G6PD G6PD G6PD G6PD (in oxidative conditions) glucose NADPH 2 a valuable product for mature erythrocyte which lacks mitochondrions and Krebs cycle Lack of NAD(P)H 2 Hb oxidation hemolysis Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: � catalyze all reaction in human body Enzyme Enzyme Disease phenylacetate Deficiency Deficiency Hemolysis G6PD phenylpyruvate (in oxidative conditions) Protein metabolism Protein metabolism Phenylalanine hydroxylase hyperphenylalaninemia. Phenylalanine Phenylketonuria (mental retardation) Phenylalanine hydroxylase tyrosine normal metabolism Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: � catalyze all reaction in human body Enzyme Enzyme Disease Deficiency Deficiency tyrosin Hemolysis G6PD (in oxidative conditions) Protein metabolism Protein metabolism Phenylalanine hydroxylase hyperhenylalaninemia. homogentisic acid Phenylketonuria Homogentisate Homogentisate (mental retardation) oxidase oxidase Omogentisate oxidase Homogentisuria, alkaptonuria , (kidney stones, heart valve impairment, acidosis, arthritis, blue- black skin spots) Fumarate, acetoacetate Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: � catalyze all reaction in human body C Η 2 OH C Η 2 OH C Η 2 OH C Η 2 OH C Η 2 OH C Η 2 OH 6 6 6 6 6 6 C Η 2 OH C Η 2 OH C Η 2 OH C Η 2 OH C Η 2 OH C Η 2 OH 6 6 6 6 6 6 Enzyme 5 5 5 5 5 5 Enzyme 5 5 5 5 5 5 Ο Ο Ο Ο Ο Ο Ο Ο Ο Ο Ο Ο ΟΗ ΟΗ ΟΗ ΟΗ ΟΗ ΟΗ Η Η Η Η Η Η ΟΗ ΟΗ ΟΗ ΟΗ ΟΗ ΟΗ Η Η Η Η Η Η Η Η Η Η Η Η 4 4 4 4 4 4 1 1 1 1 1 1 4 4 4 4 4 4 1 1 1 1 1 1 O O O O O O Η Η Η Η Η Η Η Η Η Η Η Η Disease OH OH OH OH OH OH OH OH OH OH OH OH H H H H H H H H H H H H Η Η Η Η Η Η 3 3 3 3 3 3 3 3 3 3 3 3 2 2 2 2 2 2 2 2 2 2 2 2 Η Η Η Η Η Η OH OH OH OH OH OH Η Η Η Η Η Η OH OH OH OH OH OH Deficiency Deficiency β -D- β -D- β -D-galactose β -D- β -D-galactose β -D- β -D-glucose β -D- β -D-glucose β -D- β -D- β -D- lactose lactase lactase Carbohydrate metabolism Lactose intolerance lactase lactase lactase C Η 2 OH C Η 2 OH C Η 2 OH C Η 2 OH Ο Ο Ο Ο Η Η Η Η O Η O Η Η Η galactose- -1 1- -phosphate uridyl transferase, phosphate uridyl transferase, galactose Η Η Η Η galactose-1-phosphate uridyl transferase, Η Η Η Η galactosemia OH OH OH OH OH OH OH OH H H OH OH galactokinase Η Η OH OH Η Η OH OH galactokinase galactokinase glucose galactose galactokinase galactokinase galactose- -1 1- -P P galactose uridyl transferase uridyl transferase UDP-glucose Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: � catalyze all reaction in human body Enzyme Enzyme Disease ¯O 3 SO ¯O 3 SO Deficiency Deficiency COO¯ COO¯ NHCOCH 3 NHCOCH 3 Iduronic acid Iduronic acid dermatane Carbohydrate metabolism COO¯ COO¯ ¯O 3 SO ¯O 3 SO lactase Lactose intolerance lactase lactase OSO3¯ OSO3¯ HNSO 3 ¯ HNSO 3 ¯ ηπαρίνη ηπαρίνη heparane galactose- -1 1- -phosphate uridyl transferase, phosphate uridyl transferase, galactose galactose-1-phosphate uridyl transferase, galactosemia galactokinase galactokinase galactokinase alpha-L iduronidase mucopolysaccharidosis type I ( MPS I ), Hurler's disease (accumulation of heparane sulfate & dermatane sulfate in lysosomes Hepatosplenomegaly, mental retardation) Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: � catalyze all reaction in human body Enzyme Enzyme Disease ¯O 3 SO ¯O 3 SO Deficiency Deficiency COO¯ COO¯ NHCOCH 3 NHCOCH 3 Iduronic acid Iduronic acid dermatane Carbohydrate metabolism COO¯ COO¯ ¯O 3 SO ¯O 3 SO lactase Lactose intolerance lactase lactase OSO3¯ OSO3¯ HNSO 3 ¯ HNSO 3 ¯ ηπαρίνη ηπαρίνη heparane galactose- -1 1- -phosphate uridyl transferase, phosphate uridyl transferase, galactose galactose-1-phosphate uridyl transferase, galactosemia galactokinase galactokinase galactokinase alpha-L iduronidase mucopolysaccharidosis type I ( MPS I ), Hurler's disease (accumulation of heparane sulfate & dermatane sulfate in lysosomes Hepatosplenomegaly, mental retardation) Heparane-N-sulfatase accumulation of heparane, L-iduronate-2-sulfatase dermatane, keratane β -galactosidase in lysosomes ......... Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: � catalyze all reaction in human body Enzyme O O O O O O Enzyme o o P O P O P O P O P O P O CH 2 CH 2 NH 2 CH 2 CH 2 NH 2 CH 2 CH 2 NH 2 CH 2 CH 2 NH 2 Disease OH OH OH OH OH OH 1 1 1 H H H 2 C H 2 C H 2 C H 2 C H 2 C H H φωσφοαιθανολαμίνη φωσφοαιθανολαμίνη φωσφοαιθανολαμίνη φωσφοαιθανολαμίνη Deficiency Deficiency 2 2 2 Η C Ν H- CO-R Η C Ν H- CO-R Η C Ν H- CO-R Η C Ν H- CO-R Η C Ν H- CO-R 3 3 3 HC OH HC OH HC OH HC OH HC OH CH CH CH CH 4 4 4 CH CH CH CH 5 5 5 CH 2 CH 2 CH 2 CH 2 6 6 6 CH 2 CH 2 CH 2 CH 2 7 7 7 CH 2 CH 2 CH 2 CH 2 8 8 8 Lipid metabolism CH 2 CH 2 CH 2 CH 2 9 9 9 CH 2 CH 2 CH 2 CH 2 10 10 10 CH 2 CH 2 CH 2 CH 2 11 11 11 sphigomyelinase Sphingomyelin storage CH 2 CH 2 CH 2 CH 2 12 12 12 CH 2 CH 2 CH 2 CH 2 13 13 13 (Niemann-Pick disease) in lysosomes CH 2 CH 2 CH 2 CH 2 14 14 14 CH 2 CH 2 CH 2 CH 2 15 15 15 (ataxia, disarthria, disphagia, demedia etc. ) CH 2 CH 2 CH 2 CH 2 16 16 16 CH 2 CH 2 CH 2 CH 2 17 17 17 CH 3 CH 3 CH 3 CH 3 18 18 18 σφιγγοσίνη σφιγγοσίνη σφιγγοσίνη ceramidase Lipid storage in lysosomes (Farber disease) (moderately impaired mental ability, swallowing problems) Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
Enzymes: � catalyze all reaction in human body apo Β – Ε / LDL receptors apo Β – Ε / LDL receptors insulin insulin apo Ε receptors / apo Ε receptors / Chylomicron Chylomicron 70% 70% remnant receptors remnant receptors VLDL VLDL LPL LPL LPL LPL chylomicrons Chylomicron chylomicrons Chylomicron LPL LPL remnants remnants + + IDL IDL LDL LDL + + insulin insulin + + Enzyme Enzyme insulin insulin απο CII (HDL) απο CII (HDL) Disease απο CII (HDL) απο CII (HDL) insulin insulin Deficiency Deficiency apo Β – Ε / LDL receptors apo Β – Ε / LDL receptors other tissues other tissues Adrenal gland Adrenal gland adipose tissue adipose tissue Lipid metabolism Hyperlipidemia Lipoprotein lipase (LPL) type I Dr Phaedra Eleftheriou, Department of Medical Laboratory Studies, Alexander TEITH, Greece
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