1 Orotic aciduria Pyrimidine metabolism HMP shunt Glycolysis Galactose metabolism Glycogenolysis / glycogenesis Glucose Lactose 2 G6PD deficiency ATP Glutamine CO2 NADPH NADP+ NADPH NADP+ ADP Glucose Hexokinase / Glucose-6-10 15Glactose-1-phosphate Lactase13 3 Lesch-Nyhan Cpharobsapmhaotyel Ribulose-5- 6-phosphogluconate 9 gluGcloukcinoassee-6-phopshpohspahtaetase Phosphoglucomutase Glucose-1- uridyltransferase Galactose-1- 14Galactokinase Galactose syndrome synthetase II phosphate Gpdehluhocysodpsrheoa-g6tee-n2ase Sucrose phosphatUeDP-galactose UDP-glpuchoosesphate ADP ATP Areldduocsetase Glucose 4 Severe combined Carbamoyl phosphate Ribose-5- Fructose- Hexokinase Fructose Galactitol phosphate Transketolase Transketolase 6-phosphate 4-epimerase immunodeficiency Aspartate Ddeihhyyddrrooogreontaatsee synthePtRaPsPe AATDPP Pi (SCID) PFK-1 Fructose-1,6- ATP Orotic acid 1 UMP synthetase PRPP bisphosphatase Fructokinase16 Fructose-1,6-bisphosphate ADP 5 Ornithine PRPP Fructose- UMP amido- 1-phosphate transcarbamylase transferase Glyceraldehyde- Dihydroxyacetone Aldolase B17 deficiency UDP 3-phosphate phosphate (DHAP) Fructose IMP Ribonucleotide metabolism reductase 6 Phenylketonuria Glyceraldehyde dUDP CTP NAD+ AMP GMP 7 Alkaptonuria 5,10- Purine metabolism NADH Acyl-CoA synthase Fatty acid metabolism methylene dUMP Glycerol Acyl-CoA THF 1,3-bisphosphoglycerate Thymidylate 8 Albinism THF synthase ADP Acyl-carnitine DihydrofolateDHF DTMP Ribose-5- 18 Carnitine CAT I Cytosol reductase phosphate ATP Triglycerides 9 Maturity onset 3-phosphoglycerate diabetes of the young GMP IMP AMP Fatty acids Mit. Matrix CAT II 2-phosphoglycerate Carnitine Acyl-carnitine 10 Von Gierke disease Guanosine HG3PRT Inosine 4ADAAdenosine APRT GTP GDP Fsyantttyh aacseid Acyl-CoA 11 Pyruvate kinase Guanine PRPP Hypoxanthine Phosphoenolpyruvate Malonyl-CoA FADH2 19 Adechyly-dCrooAgenase Xanthine Phosphoenolpyruvate ADP deficiency oxidase PRPP carboxykinase 11Pyruvate NADH Xanthine Adenine kinase ATP Acacrebtoylx-yCloaAse Acetyl-CoA Xanthine 12 Pyruvate oxidase Gluconeogenesis Pyruvate Uric acid dehydrogenase Purine salvage pathway Lactate Pyruvate 12 Cholesterol synthesis dehydrogenase dehydrogenase deficiency Urine Oxaloacetate NADH Cholesterol Lactate NAD+ Acetyl-CoA NADH Mevalonate 13 Lactose intolerance NH3 + CO2+ ATP Aspartate Oxaloacetate NAD+ Malate 14 Galactokinase syCpnahtrohbseaptmhasaoetye Il transc5arObarnmityhlainseeCitrulline Asyrngtinhiansoesuccinate Malate dehyMdoaglaenteaseNAD+NADH CCiittraratet seynthase Acetoacetyl-CoA HMG-CHoMAG-CoA reductase Carbamoyl Argininosuccinate TCA cycle deficiency phosphate Fumarate Isocitrate Argininosuccinate Ornithine lyase Succinate FADH2 NAD+ Isocitrate Acetoacetate 15 Classic galactosemia dehydrogenase FAD NADH + CO2 dehydrogenase Arginine Succinate α-Ketoglutarate β-hydroxybutyrate GTP NAD+ 16 Essential fructosuria Urea cycle Urea Arginase GDP NADH + CO2 αd-eKheytdorgolguetanraastee Ketone metabolism H2O Succinyl-CoA 17 Fructose intolerance Maleylacetoacetate 5, 10-methylene Homogentisic acid 7 Mmeutthayselmalonyl-CoA Pyrimidines THF Mteetrtahhyylednroefolate 18 Systemic 1° carnitine Thiamine (B ) Homogednitoixsyagteenase Melanin Methylmalonyl-CoA + lipids 5-mreedthucytlase (MTHFR) 1 THF THF Riboflavin (B ) deficiency 6 Phenylalanine Tyrosinase 8 2 hydroxylase Niacin (B ) Phenylalanine Tyrosine DOPA Propionyl-CoA Methionine Homocysteine Cystathionine Cysteine 3 DOPA Methionine 21 Cystathionine Cystathionase 19 MCAD deficiency Pantothenic acid (B ) BH4 BH2 BH4 BH2 decarboxylase synthase synthase Branched-chain 5 α-ketoacid dehydrogenase Pyridoxine (B ) 6 Dihydrobiopterin 6 Dihydrobiopterin Dopamine complex 20 S-adenosyl S-adenosyl 20 Maple syrup urine 6 reductase reductase α-ketoacid methionine (SAM) homocysteine Biotin (B ) disease 7 Norepinephrine ATP Folate (B ) 21 Homocystinuria Cobalam9in (B ) Amino acid metabolism PNh-meneytlheytlhtraannoslfaemraisnee- •• VIsaollienuecine Methylation Homocysteine metabolism 12 Epinephrine Copyright © 2018 by Physeo All rights reserved. No part of this publication may be reproduced, distributed, or transmitted in any form or by any means, including photocopying, recording, or other electronic or mechanical methods, without the prior written permission of Physeo, except in the case of personal study purposes. www.physeo.com BIOCHEMISTRY MAP 1 Orotic aciduria Pyrimidine metabolism HMP shunt Glycolysis Glycogenolysis / Galactose metabolism 2 G6PD deficiency ATP Glucose glycogenesis Lactose 3 sLyenscdhro-Nmyehan Glutamine CpsyhanrobtshCapemOhtaao2styeel II Rpihbouslopshea-t5NeA-DPH NADP6+-phosphogluconateNADGpdPehlHuhocysodpNsrhAeoDa-gP6tee+-n92aHsgeelxuGAoclkoDuiknPcianosaess ee/-6-phoGpshlupochsopasheta-e6ta-s1e0 PhosphoglSucuocmroutsaeseGlucosepGhluocsopshea-1tUe-D15P-Gugrlaaidlcaytcolttsroaens-1es-fperhaosUseDphPa-gtelGpuchaoolsaescpthosaete-1-A14DGPalacAGtToPlkuincaoseseGalactLAreoalddcsuoteacsseteas1e3 4 (SimSeCvmIeDur)en coodmefbiciineendc y AspCaarrtbaatmeoyOl rpDdoheithhoiycysdd aprroochogiardeotnteaa1tseeUMP syntshyenttahsePetRapPPsRPehRiboPosPpseh-a5t-e Transketolase Transketolase AATDPPP6F-KFp-1rhuocstopsheFbar-iustpcehtooPssepi-h1a,6t-ase HexokinaseATP FructForuscetokinase16 4-epimerase Galactitol Fructose-1,6-bisphosphate ADP 5 Otrarnnistchainrbea m ylase UMP tranasmfePriRdaPsoPe- F1r-upchtoosspeh-ate deficiency UDP IMP Glyc3e-rpahldoesphyhdaete- pDhihoysdprhoaxtyea (cDeHtoAnPe) AldolFasre uBc17tose 6 Phenylketonuria RibroenduudccltUeaosDetiPde CTP Glyceraldehyde metabolism 7 Alkaptonuria me5tTh,H1y0Fle-ne dUMP AMP GMP Purine metabolism 1,3NN-AAbDDi+Hsphosphoglycerate Glycerol Acyl-CoA synthase Acyl-CoA Fatty acid metabolism 8 Albinism DreidhuydcTtraoHsfFeolateDHF DTMTsPyhnytmhaidsyelate pRhiboospseh-a5t-e ADATPP Triglycerides 18Carnitine CAT I Acyl-carnitineCytosol 9 Maturity onset 3-phosphoglycerate diabetes of the young GMP IMP AMP Fatty acids Mit. Matrix 10 Von Gierke disease Guanosine HG3PRT Inosine 4ADAAdenosine APRT GTP GDP 2-phosphoglycerate Fsyantttyh aacseid Carnitine AcCyAlT- CIIoAAcyl-carnitine 1 112 dPPyyerrfuuicvvieaantteec yk in ase Guanine PRPP HyXpUaornixcta hanXoXocitxxaanihiinndddettiaahhnssiieeennee PRPPAdenine GPcalhurobscopoxhyonkeiennaooslepgyerunvaetesis Ph11oPsyprkuhiPnvoaaystereeunvoalpteyruAvDAaTPtPe MalonyAcla-cCrebtooylAx-yCloaAse FNAADDHH2Acetyl-1C9oAdAechyly-dCrooAgenase dehydrogenase Purine salvage pathway dehydroLgaecntaastee Pdyerhuyvdartoeg1e2nase Cholesterol synthesis deficiency Urine Oxaloacetate NADH Cholesterol LactateNAD+ Acetyl-CoA 13 Lactose intolerance NH3 + CO2+ ATP Aspartate NNAADD+H MalateOxaloacetate Mevalonate 14 Galactokinase syCpnahtrohbseaptmhasaoetye Il transc5arObarnmityhlainseeCitrulline Asyrngtinhiansoesuccinate Malate dehyMdoaglaenteaseNAD+NADH CCiittraratet seynthase Acetoacetyl-CoA HMG-CHoMAG-CoA reductase 15 dCelafsicsiiec ngcaylactosemia Cpharobsapmhaotyel Ornithine ArgiAnrignieAlnyraigsnienoinsouscucccininaattee dehydSrougcceFiSnnuauasmtceecairnaFaFAtAteDDeH2TCA cycNlAeDH +N CAαOD2-+IKsoeIdscteooihtcgyritadlruartotetegaernaatsee Aβ-cheytodarocxeytabtuetyrate 16 Essential fructosuria Urea cycle Urea H2O Arginase GTPGSDuPccinNAyDl-HC +o CAON2AD+ αd-eKheytdorgolguetanraastee Ketone metabolism 17 Fructose intolerance Maleylacetoacetate 5, 10-methylene 1 8 dSyesfticeimenicc y1° carnitine NRThiibaiaocmifnlai n(vBien )( B(B12)) Phenylalanine6PhhydernoyxlayllaaHnseoinmeTyorgoesHdniniotoemixsyoaggteeennatsiseic acid7 MDeOlaPnTAyinrosinase8 MePthroyplmioanlyoMmln-euCytthaloy-seAClmoaAlonyl-CoA P+y lripiMmideidsthinioensineTHF THF 5-mTMtrHeeeHedttFrhtuoahchymytyllaedsonreoce (fyMoslTatHteeFiRn)e Cystathionine Cysteine 1290 MMCapAlDe sdyerfuicpi eunrcinye PPaynritdootxhien3nei c(B a6c)id (B5) 6DreBidhHuydc4traosbeioBpHte2rin 6DrBeidhHuy4dctraosbeioBpHte2rinDopamDdeiOncPaeArboxylase α-ketoBαcaor-ckamiendptcohleaexcdid-c dheahiny droge2n0ase Sm-aedtheinoonsinyle (MsSyeAnttMhhiao)sneine Sh-oamdeoncoyssty2el1ineCsyynstthatahsieonine Cystathionase Biotin (B) disease Folate (B7) Norepinephrine ATP 21 Homocystinuria Cobalam9in (B ) Amino acid metabolism PNh-meneytlheytlhtraannoslfaemraisnee- •• VIsaollienuecine Methylation Homocysteine metabolism 12 Epinephrine MEDICAL COURSE AND STEP 1 REVIEW FIRST EDITION Accompanies online videos taught by Michael Christensen & Rhett Thomson physeo.com