Table Of Content1 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
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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
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