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LIVER GLYCOGENOSES
R — O — P — O — P — O— Adenosine(P)
OH OH
O +
N
COO-
O
R — O — P — O — P — O — Adenosine
O-
O
O- NICOTINATE
N
COO-
2.4.2.
11
+
N
COO-
+
N
COO-
COO-
N
COO-
COO-
AMINO ACID METABOLISM
Xanthurenic aciduria
Kynureninase 3.7.1.3
Indoleacetate NH
+ +
SUBSTANCES 2.7.1.23 6.3.5.1 RP 2.4.2.19 RP 2.4.2.19
3, 4-Dihydroxy- OH
OCH3
OCH3
Hydroxyphenyl-
ethanolamine
Hydroxyphenyl-
acetaldehyde
Phenyl
acetaldehyde
Benzoate
H OH H
4.1.1.34
OH OH H
5.3.1.3
OH OH
D-mandelate 4-Hydroxy-3-methoxy- OH
1.14.18.1
CH(OH)CHO CH2COO-
1.14.13.12 Aminomethyltransferase 2.1.2.10
H H HO +
CH2CH(NH3)COO- CH2COO-
L-XYLOSE D-ARABINOSE D-RIBULOSE 2.2.1.1 D-mandelate Normetadrenaline COSCoA
6.2.1.25
Sorbitol dehydrogenase deficiency 1.1.1.14 P OCH2 C C C CO CH2OH (VMA) H
1.4.3.4
1.2.1.3 1.2.1.39
HOCH2
OH H
C C
H
C CH2OH HOCH2
OH H
C C CO CH2OH OCH2
OH H
C C CO CH2OH 2.7.1.47 4.2.1.12 OH OH H
CH(OH)CH2OH N O
I I
OH
PURINE & PYRIMIDINE
P OH
Primary sucrase-isomaltase deficiency CH(OH)CH2OH O Hydroxyphenyl Hydroxyphenyl Phenyl acetate Benzoyl-CoA METABOLISM
H
L-Arabitol
OH OH H
L-Xylulose
OH
2.7.1.53
H
L-Xylulose-5-P
OH 5.1.3.1
Fructose-6-P OH
OCH3
O
O
glycolaldehyde
CH(OH)COO-
acetate - COO
CO.NHCH2COO-
Sucrase 3.2.1.48 OH
4-Hydroxy-3-methoxy
OH OH H H OH H H OH H H H
ATP OH
3, 4-Dihydroxy phenylglycol
I I 1.2.1.3 3.5.1.32 Xanthinuria
HOCH2 C C C CHO HOCH2 C C C CH2OH HOCH2 C C C CHO P OCH2 C C CO CH2OH H H 2.1.1.6 O N OH OH
3.1.3.11 2.7.1.11 phenylglycol (MOPEG) H 1.14.13.12
Xanthine oxidase 1.1.3.22
Pentosuria H H OH OH H OH OH H OH OH OH 2 P OCH2 C C CHO MELANIN THYROXINE OH
Coenzyme-Q Hydroxybenzoate Hippurate
1.1.1.10 2.7.1.47
ADP N
Hydroxy-
L-Xylulose reductase 1.1.1.10 L-Arabinose Xylitol D-Xylose D-Ribulose-5-P OH OH
Erythrose-4-P H2C
NH
H2C
NH
HC
-OOC N mandelate -OOC.CH.CH COO-
2
N
O
C N
O
NH2 C C
N
OH H H 5.3.1.4 OH OH OH OH H H HO CH2O P
OC
CHO
HN C
CHO
H2N C
CH C
CH HNCOC
CH
NH2 C
CH
CH Primary Gout
O NHCOCH2NH2 C H2N C C HCO
HOCH2 C C C CHO HOCH2 C C CO CH2OH OCH2 C C CO CH2OH 5.1.3.1 NH NH N N N RP
FRUCTOSE P
P OCH2 C C C CO CH2O P 2.1.2.2 RP 6.3.5.3 RP 6.3.3.1 RP 4.1.1.21 H2N RP 6.3.2.6
N RP
4.3.2.2 NH2
N RP 2.1.2.3
N
H I AMP deaminase 3.5.4.6
H OH OH H H H H H OH OH OH H Glycinamide- Formyl Formyl 5-Aminoimidazole-RP 5-Amino-4-imidazole 5-Amino-4-imidazole 5-Aminoimidazole Formylamido-
L-LYXOSE L-RIBULOSE L-Ribulose-5-P 5.1.3.4 5.3.1.6
4.1.2.- ribosyl-P glycinamide-RP glycinamidine-RP carboxylate-RP (N-succinylcarboxamide)-RP carboxamide-RP imidazole- II Hypoxanthine phosphoribosyltransferase 2.4.2.8
Essential fructosuria H OH OH
2.7.1.16
H OH
P OCH2 C
OH H
C CO CH2OH
2.2.1.2
Fructose- 6.3.4.13
OH OH
H2NCONH2
H
NH2 COO- NH2
H2N OC
NH O
C
C
N O
C
N O
C
N O
N
carboxamide-RP III Ribosephosphate pyrophosphokinase 2.7.6.1
Ketohexokinase 2.7.1.3 HOCH2 C C C CHO
1.1.1.9 HOCH2 C C CO CH2OH
2.7.1.17
D-Xylulose-5-P 1:6-bis-P 3.5.3.4
Urea OC C
N H
CO
NH
OC C
N H NH
CO
OC
HN
N
C
NH
CO HN
OC
C
C
CH HN
HC
C
C
CH
2.4.2.1 Asparate
HN
C
C
CH 3.5.4.10
OH H H OH H H 3.5.2.5 H N NH 1.1.3.22 NH HC
1.7.3.3 H 1.1.1.204 N
D-LYXOSE
5.3.1.15
D-Xylulose CH2(NH2)COOH
Allantoate Allantoin URATE
H
Hypoxanthine
2.4.2.8 N N RP
Adenylosuccinate lyase 4.3.2.2
Xanthine INOSINE-P
Fructokinase deficiency 2.7.1.4 H OH OH H H H H H H GLYCINE NH2 NH2
1.1.3.22
NH2 N
-OOC.CH.CH COO-
2
H H H H H H OH CH2O P
1.4.1.10
N
N N C Fumarate NH 6.3
.4.4 (IMP)
HOCH2 C C C CH2OH HOCH2 C C C CH2OH HOCH2 C C C CHO
P OCH2 C C C CHO
O NH2
2.6.1.4 1.5..3.1
O
N N C
CH C N 3-Aminoisobutyric aciduria
P OCH2 C C C C CO CH2O P 1.5.99.1 N O O O
Fructose-1,6-bis-phosphatase deficiency 3.1.3.11 OH H H OH OH OH OH OH OH 2.1.1.20 N N N
3.6.1.3 HC C N C
CH
3-Aminoisobutyrate aminotransferase 2.6.1.22
D-Arabitol Ribitol D-RIBOSE
2.7.1.15 OH OH OH OH OH OH H
4.1.2.13
-OOCCH NHCH
-O P O CH2 O -O P ~O P ~O P O CH2 O 2.7.4.6 2.7.4.3
N N RP
HC C
O
C N 1.1.1.205
D-Ribose-5-P Sedoheptulose-P OH OH
2
Sarcosine
3
GLUCONEOGENESIS complex N N DP
2e- NADH 6.3.4.3 SERINE H 1.3.1.2 H 2.4.2.4
N
DP 3.5.4.12 2.7.4.14
Plasto f
PC NADPH 6.3.4.17
CH3
H2NCH2CHCOO-
3.5.1
.6
ß-Ureido
isobutyrate
3.5.2.2
Dihydro
thymine
Thymine
O O
THYMIDINE-PNH 2.1.1.45
d-UMP d-CMP d-CDP 5,10-Methylenetetrahydrofolate reductase 1.7.99.5
Glucose-6-phosphatase 3.1.3.9 quinone 1.10.99.1 H 2.7.1.28 2.6.1.51 C C C
2
+
1.4.1.7
Mn Plasto H H ß-NH2-Isobutyrate HN CH2 HN CH N CH
cyanin P700 P OCH2 C C CO CH2O P
HOCH2 C CHO P OCH2CHOHCOO P
HOCH2COCOO- 4.1.1.11 OC CH2 OC CH OC CH 1.17.4.1 Dihydrofolate reductase 1.5.1.3
Fructose-1,6-bis-phosphatase 3.1.3.11 P680 Photo- OH OH Glyceraldehyde
OH
1:3-bis-P-Glycerate Hydroxy-
pyruvate 3.1.3.3
H2NCH2CH2COO-
ß-Alanine
3.5.1.6
H2NCONHCH2CH2COO-
Carbamoyl
3.5.2.2
Dihydrouracil
N
H 1.3.1.2
N
Uracil
H 3.5.4.1
Cytosine
N
H 2.4.2.1
CDP
system
I
Ribulose-1:5-di-P -OCO O
C
ß-alanine O
C
O
C
O
C
O
C NH2
Glutamate formiminotransferase 2.1.2.5
Phosphoenolpyruvate carboxykinase (GTP) 4.1.1.32 2H+ CH2O P ADP HN CH C
1/2 O2 Light-driven electron flow from H2O to NADP+
CO2 Fixation
P-Ribosyl-PP
O 1.1.1.29
1.1.1.81
P OCH2CH(NH2)COO-
Phospho-
H2N
OC
N
CH2
CH.COO-
HN
OC
N
CH2
C.COO-
HN
OC
N
CH
C.COO-
HN
OC
N
CH
C.COO-
2.4.2.9 NH
OC
N
CH
CH OC
N
CH
3.6.1.15
2.7.4.6
N
OC
CH
CH AMINO ACIDS
2.7.2.3 2.6.1.22 RP RP RPPP
4.1.1.39 OPP serine H 3.5.2.3
H
1.3.1.14
H 2.4.2.10 4.1.1.23 2.7.4.4 2.7.4.6 6.3.4.2 N
Pyruvate carboxylase 6.4.1.1 HO HO Carbamyl Dihydro Orotate Orotidine-P Uridine-P UDP UTP CTP RPPP
COO- COO-
OH OH
ATP 2.6.1.52 aspartateH H H H
orotate NH 2 H H H H NH2 (UMP) H H CONH2 N H H Cystathioninuria
COO- 2.6.1.18 N N
C OC
NON-SPHEROCYTIC P OCH2CHOHCOO- P OCH2COCOO-
P OCH2 C C C C N
+
C
CH
P OCH2 C C C C NH C
CH
P OCH2C C CO CH2 NH C
CH
P OCH2 C C C CH Cystathionine lyase 4.4.1.1
1.13.11.34
Linoleate 1.14.99.25 g-Linolenate HC C HC C HC C OH OH HN N
HAEMOLYTIC ANAEMIAS DUE TO
COO-
Arachidonate
O
Leucotriene B4 O 3-P-Glycerate 1.1.1.95
P-hydroxy-
pyruvate
3.5.1.7
2.1.3.2
2.4.2.17
OH OH
O
N N
RPPP
OH OH
O
N N
RPP
OH OH
P-Ribulosylformimino
N N
RP
C
H
ERYTHROCYTE ENZYMOPATHIES 1.3.1.35
5.3.99.3
1.14.99.1 COO- COO- P-Ribosyl-ATP P-Ribosyl-AMP P-Ribosylformimino Imidazole glycerol-P Histidinaemia
CO.S-ACP 2.7.1.31 HCOO- 3.6.1.31 3.5.4.19
5-Aminoimidazole- 5.3.1.16 5-Aminoimidazole-
COSCoA
HOCH2CH(OH)COO- Formate -OOC CHCH2COO- carboxamide-RP
4.2.1.19 Histidine ammonia-lyase 4.3.1.3
HO
O -OOCCHCH COO- carboxamide-RP
Hexokinase 2.7.1.1 Oleoyl-CoA Palmitoleoyl-ACP HO OH
5.3.99.5
OH P OCH2CH(O P )COO- Glycerate 2
OC CHCH2COO- HC C — CH2COO- HC C — CH2CHO HC C CH2COCH2O P
Prostaglandin PGE2 Thromboxane B2 5.4.2.1 NHCHO
HN NH
Imidazole acetol-P
1.14.99.5
COSCoA CH3(CH2)14CH=CHCOSCoA CH3(CH2)14CH(OH)CH2COS.CoA CH3(CH2)14COCH2COS.CoA
2, 3-Diphospho- C
H
N NH N NH N NH N
C
NH
Homocysteinaemia
glycerate CH3COO P 3.5.1.8 N-Formyl C C C
H 2.6.1.9
Glucose-6-phosphate isomerase 5.3.1.9 Stearoyl-CoA Dehydrostearoyl-CoA OH-Stearoyl-CoA Oxostearoyl-CoA aspartate Formimino H Imidazolone H
Imidazole Imidazole
H
Cystathionine synthase 4.2.1.22
ACETYL-P aspartate acetate 1.14.13.5 acetaldehyde HC C CH2CH(NH2)CH2O P
Fatty Acyl Synthase - 2.3.1.85 - includes
Microsomal
3.5.3.5 acetate
Histidinol-P
6-Phosphofructokinase 2.7.1.11 CH3(CH2)14COS-ACP
EC 2.3.1.38, 2.3.1.39, 2.3.1.41, 1.1.1.100, 4.2.1.61, 1.3.1.10, and 3.1.2.14
CH3(CH2)14COSCoA
HOCH2CHO P COO-
2.7.2.1
SO42- -OOC CHCH2CH2COO- OC CHCH2CH2COO-
HC C CH2CH2NH2
N
C
H
NH
3.1.3.15
5-Methyltetrahydrofolate-homocysteine
Palmitoyl-ACP Palmitoyl-CoA Chain elongation Mitochondrial
2-P-Glycerate 1.8.2.1
1.8.3.1
2.7.7.4
2.7.1.25
H2N
C
O
NH HN
C
O
NH
N
C
NH
HC C CH2CH(NH2)CH2OH
methyltransferase 2.1.1.13
CH3(CH2)n+2CO.S-ACP CH3(CH2)nCH=CHCO.S-ACP CH3(CH2)nCH(OH)CH2CO.S-ACP CH3(CH2)nCOCH2CO.S-ACP
Fructose-1,6-bis-phosphate aldolase 4.1.2.13 1.3.1.9 4.2.1.60 1.1.1.100 CH3COO- P-Adenyl-SO4 Carbamoyl glutamate Hydantoin-5- H
HISTAMINE N NH Histidinol
ACYL-ACP 1.3.1.10 2, 3-Enoyl-ACP 4.2.1.61
3-OH-Acyl-ACP 3-Oxoacyl-ACP propionate C
1.1.1.23 Glutamylcysteine synthase deficiency
2.3.1.41 ACETATE 1.8.99.4 4.1.1.22 H
CH2CH(N H3)COO-
+
CH2OH CH2OH Malonyl-ACP ATP 4.4.1.1 Cysteamine + + + CH3 + + Erythrocyte glutathione synthase deficiency
CH3(CH2)n+2CO.S-CoA R.CH2COO- 1.1.1.8 HO2SCH2CH(N H3)COO- HO3SCH2CH(N H3)COO- SCH2CH2CH(N H3)COO- SCH2CH2CH(N H3)COO-
1.1.1.1
6.2.1.3 2.3.1.41
Cysteine sulphinate Cysteate S-Adenosyl S-Adenosyl Glutathione synthase 6.3.2.3
Pyruvate kinase 2.7.1.40 ACYL-CoA 3.1.2.20 FATTY ACID HOCH HOCH
2.3.1.39 4.1.1.29 homocysteine 2.1.1.20 2.1.1.10
methionine
(Cytosol)
CH2OH 2.7.1.30 CH2O P
KETONE BODIES 3.7.1.2 CH3CHO 4.1.1.29 (SAM) Hydroxyisobutyryl-CoA hydrolase 3.1.2.4
Glycerol 3-P-Glycerol 4.1.1.1 4.1.2.5
Glutamate 6.3 +
-OOCCH(N H )CH CH CONHCHCOO-
Hyperoxaluria 2.3.1.7 CH3COCH3 CH3CH(OH)CH2COO- CH3COCOO- Acetaldehyde .2.2 3 2 2 +
-OOCCH(N H )CH CH CONHCHCONHCH COO-
4.2.99.9 CH2SH
3 2 2 2
HO2SCH2COCOO- Methylmalonic acidaemia
Carnitine O.CO.R
CH2O.CO.R CH2O.CO.R CH2O.CO.R
2.3.1.15
2.3.1.51
ACETONE 3-OH-Butyrate
4.1.1.4
1.1.1.30
HOOCCH2CO.SCoA
Malonyl-Co-A PYRUVATE 1.4.1.1
CH3CH(N H3)COO-
+ 3-Sulphinyl
HO2SCH2CH2NH2
Hypotaurine
1.8.1.3
HO3SCH2CH2NH2
Taurine
g-Glutamylcysteine
6.3.2.3
Glutathione CH2SH
Phosphatidyl
OH
Glycolate glutaryl-CoA
OXALOACETATE 1
HOCH2CHCOO-
3-Hydroxy-
HOCH2CHCOSCoA CH2 = CCOSCoA CH3CHCO.SCoA
4-P-Pantothenate 4-Hydroxybutyric acidaemia
Medium-chain acyl-CoA dehydrogenase 1.3.99.3 R'OH2C 2.7.8.11 1.2.1.21 3-Hydroxy- Methylacrylyl- Isobutyryl-CoA
inositol
CH2OR'
HCOR
CH2OR' HOOC.COOH 1.1.1.34 isobutyrate 3.1.2.4 isobutyryl 4.2.1.17
CoA 1.3.99.3 2.7.1.33 Succinic semialdehyde dehydrogenase 1.2.1.16
4.1.1.65 ROCH O O
ROCH O
Oxalate HOCH2CHO 4.1.3.8
1.1.1.37
CoA HOCH2C (CH3)2CH(OH)CONHCH2CH2COO-
Short-chain acyl-CoA dehydrogenase 1.3.99.2 CH2OR
CH2OPOCH2CHOHCH2OPOCH2
Glycol CH2COO- 4.1.3.7 -OOCCH(OH)CH COO- COOH COOH 1.2.1.25
PANTOTHENATE
CH2OPOCH2CHOHCH2OH CH2COO- 2
R'OCH O O- O- O-
aldehyde C(OH)COO- MALATE (CH3)2CHC(OH)CH2COO- (CH3)2CHCHCH(OH)COO- (CH3)2CHCH2COCOO- (CH3)2CHCH2CH(N H3)COO-
+
3.5.1.22
Aminoadipic aciduria
CH2OP OCH2CH2NH3
+ Cardiolipin Phosphatidyl-glycerol 1.4.3.8
CH3C(OH)CH2CHO
CH3CH2COSCoA ß-Alanine 6.3.2.1
3-Hydroxyacyl-CoA dehydrogenase 1.1.1.35 O- CPP OCH2CH2NH3
+
P OCH2CH2NH3
+ +
HOCH2CH2NH3
Mevaldate CH2COO-
4.1.3.2 Propanoyl-CoA
2-Isopropyl- 3-Isopropyl- Oxoleucine LEUCINE HOCH2C (CH3)2CH(OH)COO-
2-Aminoadipate aminotransferase 2.6.1.39
HOOCCHO malate 4.2.1.33 malate 1.1.1.85
Phosphatidyl CDP ethanolamine Ethanolamine-P
2.7.1.82
Ethanolamine 1.1.1.32
CITRATE Glyoxylate
4.2.1.2
-OOCCH=CHCOO-
1.4.3.1
2.1.3.1 6.4.1.3 CH3 CH3
2.6.1.6
Pantoate
Acetyl-CoA C-acyltransferase 2.3.1.16 ethanolamine 2.7.8.1 2.7.7.14 4.1.1.41 -OOCCH C = CHCOSCoA CH3C = CHCOSCoA (CH3)2CHCH2COSCoA CH3 Hyperpipecolic acidaemia
CEPHALIN CH2OR CH2OH CH3COCH2CH2N(CH3)3
+ 4.2.1.18
FUMARATE 5.1.99.1 2
SPHINGOLIPIDOSES
CH2OPOCH2CH2N(CH3)3
+ CH2O P
O-
OCH2CH2N(CH3)3
CPP OCH2CH2N(CH3)3
+
P OCH CH N(CH )
2 2 3 3
+
2.7.1.32
HOCH2CH2N(CH3)3
+ 2.7.4.2
CH2COO- SUCCINATE ASPARTATE
2 3
2.7.2.4
Aspartyl-P 1.2.1.11
Aspartyl 2, 3-Dihydro- 1.3.1.26 Piperideine-2, 6- N-Succinyl-2- N-Succinyl-2,6- Diamino-
2.6.1.17 N H3
O- 2.7.7.15
Choline-P 4.1.3.1
semialdehyde
4.2.1.52
dipicolinate dicarboxylate amino-6-oxopimelate diaminopimelate 3.5.1.18 pimelate Saccharopinuria
Choline plasmalogen LECITHIN 2.7.8.2
CDP-choline
3.1.4.3
CHOLINE
CH2COO-
ISOCITRATE GTP
+
NH3
O O 6.2.1.4
3.1.2.3 CH2CH2COO- CH2CH2COO- COO-
Saccharopine dehydrogenase 1.5.1.9
Acylsphingosine deacylase (Ceramidase) 3.5.1.23 (Farber) + 1.3.1.35 +
GDP+Pi
CH3(CH2)14COCHCH2OH
NH3
CH3(CH2)14CH(OH)CHCH2OH
NH3
3.1.4.4
+
NH3
CH3(CH2)12CH CHCH(OH)CHCH2O Galactose
CH3C(OH)CH2CH2OP.O.P
Diphospho- O- O-
OH
CO2 -OOCCH CH COSCoA
2 2
6.3.5.4
5.4.99.2 HO–CCOO- CH.COO-
-OOCCH CH CH CH(N H )COO-
+ NH CHCH2CH2COO-
H2NCH2CH2CH2CH2CH(N H3)COO-
+
R.CO.COO-
Glutaryl-CoA
CH3 C 5 GABA transaminase deficiency
RESPIRATORY CHAIN CH3C CHCH2OPP 2-OXO ACID 1.2.1.16 +
(CH3)3N CH2CH(OH)CH2COO-
+
(CH3)3N (CH2)3COO-
+
(CH3)3N (CH2)3CHO
+
(CH3)3N(CH2)3CH(OH)CH(N H3)COO-
+ +
(CH3)3N (CH2)3CH2CH(N H3)COO-
+
4.1.1.15
-OOCCH CH CH N H
2 2 2 3
+
1.2.1.19 H2NCH2CH2CH2(CHO)
H2NCH2CH2CH2CH2NH2 H2N(CH2)4NH(CH2)3NH2 H2N(CH2)3NH(CH2)4NH(CH2)3NH2
Hyperprolinaemia I
Ubiquinol-cytochrome c reductase 1.10.2.2
COO- Opsin CH3O n
Geranyl-geranyl-PP
C 20
C 10
OPP GLUTAMATE 4-Aminobutyrate 4-Aminobutyraldehyde Putrescine 2.5.1.16 Spermidine 2.5.1.22
Spermine
Retinoate O Coenzyme Q CH2 CH2 CH2 CH2 CH2 HOCH CH2 Proline dehydrogenase 1.5.99.8
HOCH CH2
CHO Ubiquinone 2.5.1.10
ELECTRON 1.4.1.13 H2C CH.COO- 1.2.1.26
5.2.1.3 CH.COO- CH2 CH.COO- CH2 C.COO-
Cytochrome c oxidase 1.9.3.1 trans-Retinal 11-cis-Retinal CH2OH TRANSFER 3.5.1.2 CH
1.2.1.36 6.3.1.2
N NH 1.14.11.2
N
N OHCCH2CH2COCOO- Hyperprolinaemia II
Light CHO O
Phytol SYSTEM - 1.5.1.12 1.5.99.8 H
2.3.1.76
CH2OH CH3 O
2.5.1.21 Ox Red
- + +
Glyoxylate UREA CYCLE
Porphobilinogen synthase deficiency 4.2.1.24 Vitamin E 1.7.7.1 H2NCONHCH2CH2CH2CH(N H3)COO- N -OOCCH(OH)CH CH(N H )COO- -OOCCH(OH)CH COCOO- CH3COCOO-
3.1.1.21 trans-Retinol 5.2.1.7
11-cis-Retinol CH2OH CH3
a-Tocopherol
21
20
22
23
26
NO2 6.3.5.5
CITRULLINE 3-Hydroxy- 2 3
4-Hydroxy-
2
4-Hydroxy- Pyruvate
(Vitamin A) Dark 12
17 24 25 27 ATP CO2 4.1.1.17 pyrroline- 1.5.1.12 2.6.1.23 4.1.3.16
Citrullinaemia
Acute intermittent porphyria (AIP)
11 13 16 1.6.5.3
1.6.99.2 1.6.6.4
2.1.3.3 6.3.4.5 5-carboxylate glutamate 2-oxoglutarate
9 15
+ H2N.CO.O P
Enz- Fe-S
14
1
N2 1.18.6.1 6.3.4.16
Argininosuccinate synthase 6.3.4.5
Porphobilinogen deaminase 4.3.1.8
2
3
8
7
Red Ox 1.19.6.1 NH4 Carbamyl-P Legend
4
5
6
ATP 2.7.2.11
3.5.1.20
HOOCCHCH2COO-
Carbohydrates Biosynthesis Degradation
H H H Squalene N Most characteristics of human Hyperammonaemia (Type II)
Congenital erythropoietic porphyria HO HO HO HO 5.4.99.7
C 30 ADP+Pi 1.6.5.3
2.3.1.35
CH2 CH2 H2NCNHCH2CH2CH2CH(N H3)COO-
+
anatomy and physiology are Degradation
H H 1.14.99.7
CH2(NH3 )COO-
+
1.3.5.1
Amino Acids Biosynthesis Or nithine carbamoyltransferase 2.1.3.3
Uroporphyrinogen III synthase 4.2.1.75 CHOLESTEROL Desmosterol Zymosterol Lanosterol CHO CH.COO- Arginino- determined by biochemical reactions
COO- COO -
Glycine Ox Red P OOCCH2CH2CH(N H3)COO-
+
H2NCH2CH2CH2CH(N H3)COO-
+
3.5.3.6 Lipids Biosynthesis Degradation
COO- 2.3.1.37 Ubiquinone H2N succinate catalysed by thousands of specific
CH2 CH2 CH2
COO-
CH2
COO- Glutamyl-P1.2.1.41 Glutamic semialdehyde 2.6.1.13
ORNITHINE 1.14.13.39
Purines & Pyrimidines Biosynthesis Degradation enzymes. These, in turn, are Hyperammonaemia (Type I)
Porphyria cutanea tarda (PCT) CH H
CH3 CH H2
CH3 CH2 H2
CH3
-OOC CH2 H2
CH2
5.4.3.8 4.3.2.1
CH2 CH2 CH2 CH2 H2NCONH2 NO Pentose Phosphate Pathway determined by our genetic make-up, Carbamoylphosphate synthase (ammonia) 6.3.4.16
Uroporphyrinogen decarboxylase 4.1.1.37 H3C
C
CH H3C
C
CH H3C
C
CH2 H2C
C
CH2 ATP 1.10.2.2
ADP+Pi NHCOCH3 NHCOCH3 NHCOCH3 UREA
Photosynthesis
and genes are inherited – or inborn. If
N N N N N N N N 3.5.1.16
H H H H H H -OOCCH CH COCH NH +
-OOCCH CH CH.COO-
2 2 OHCCH2CH2CHCOO- H2NCH2CH2CH2CHCOO- Human Metabolism Vitamins, Co-enzymes, Hormones a gene is defective or missing it may
HC Fe CH H2C CH2 H2C CH2 H2C CH2 2 2 2 3
COO-
2.7.2.8 2.6.1.11 Argininosuccinic aciduria
Hereditary coproporphyria (HCP) H H H H H H 5-Aminolevulinate 2H+ Red Cytochrome-c Ox N-Acetylglutamate 1.2.1.38 N-Acetylglutamic N-Acetylornithine 3.5.3.1 NH2
+
Small numbers refer to Enzyme Commission result in defective or missing enzyme.
N N N N N N N N -OOC CH2 semialdehyde H2NCNHCH2CH2CH2CH(N H3)COO-
+
Reference Numbers for Enzymes This may well be lethal, but in some Argininosuccinate lyase 4.3.2.1
Coproporphyrinogen oxidase 1.3.3.3 H3C CH3 H3C CH3 H3C CH3 H2C CH3
C
H
C
H2
C
H2 -OOC
C
H2 COO-
H2C CH2
NH CO
O NH2
+
ARGININE cases it can lead to a Metabolic
ADP+Pi ATP
4.2.1.24 +
CH2 CH2 CH2 CH2 CH2 CH2 CH2 CH2
1.9.3.1 HN C -O P NHCN(CH3)CH2COO-
NH2 NH2
+
Deficiency Disease or Inborn Error of Hyperornithinaemia (Type I)
Variegate Porphyria (VP) CH2 CH2 CH2 CH2 CH2 CH2 CH2 CH2 H2C N Cytochrome N(CH3)CH2 H2NCN(CH3)CH2COO- H2NCNHCH2COO- +
H O- CH2(N H3)COO- Metabolism. For example, in the metabolic pathway a b c d, if the enzyme which Ornithine-oxoacid aminotransferase 2.6.1.13
COO- COO- COO- COO- COO- COO- COO- COO- 3.5.2.10
5-Aminolevulinate synthase 2.3.1.37 4.3.1.8 H2N oxidase Creatinine P-creatine Creatine Glycocyamine catalyses the reaction b c is defective, c may not be formed. The reaction sequence may,
Glycine
Protoporphyrinogen oxidase 1.3.3.4
HEME 1.3.3.4
Protoporphyrinogen
1.3.3.3
Coproporphyrinogen
4.1.1.37
Uroporphyrinogen
4.2.1.75
Porphobilinogen 2.7.3.2
3.9.1.1
2.1.1.2
Guanidoacetate
2.1.4.1
however, continue to produce b which can then concentrate in body fluids such as blood or
4.99.1.1 IX III III 1/2 O2 H 2O 3.5.2.10
urine. The knowledge of the site of the defective enzyme and of its corresponding gene(s) may
Hyperargininaemia
well make possible the rational treatment of the resulting disease. The Inborn Errors of Arginase 3.5.3.1
Erythropoietic Protoporphyria
Electron Flow from Reduced NAD and Succinate to Oxygen Metabolism Map names about 120 such diseases and identifies their sites of origin.
Ferrochelatase 4.99.1.1 Biochemical understanding thus provides an insight into clinical understanding.
1.14.11.1 g-Butyrobetaine dioxygenase Family Science Research Chemical Synthesis Reagents for Research Research and Analysis and Purification
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