Inborn Errors of Metabolism

GLYCOGEN STORAGE AMINO ACID METABOLISM

DISEASES
CONH 2 COO
Fumarylacetoacetase
HYALURONIC ACID DERMATAN BLOOD GROUP ALGINATES O-ANTIGENS STARCH GLYCOGEN
COO
P (3.7.1.2)
+ O O
GLYCOPROTEINS SUBSTANCES
+ O O
N
NICOTINATE
CH2COO OH N COO COO
Ribose -O - P - O - P - O- Adenosine(P) Ribose - O - P - O - P - O -Adenosine +
MUSCLE GLYCOGENOSES O GANGLIOSIDES PEPTIDO- CH2OH CH2OH N
.1 1
+ COO
Tyrosinaemia Type I
MUCINS GLYCAN CH OHCHITIN CHONDROITIN PECTIN INULIN CELLULOSE O O NH NH O O O O Ribose- P 2.4.2 N N R
P
L Indoleacetate Indoxyl A
6.3.5.1
NAD( +P)
2.7.7.18
2
O O
HO
O (Auxin) Desamino-NAD Nicotinate- Quinolinate- MIM 276700
Y
6.3.1.5 2.4.2.19
nucleotide
O 1.1.1.132
R
O
COO - nucleotide
HO CH3
Muscle glycogen CHOH
COO -
2.4.1.68
2.4.1.69 2.4.1.21
OH OH OH
1.2.3.7
S
AcNH CHOH 6.3.2.7-10 2.4.2.19
O
O OPPT +
2.4.99.7 6.3.2.13 HO O OPPU OH OH
phosphorylase CH2OH HO OH OPPU CH3 2.4.1.29 2.4.1.1 LACTOSE
HO CH2CH(NH3)COO HO CH 2CH2NH 2 HO CH2CH2NHCOCH 3 CH3O CH 2CH2NHCOCH 3 COO
A
OPC 2.4.1.17 CH2CHO Phenylalanine hydroxylase
M
CH3CH NHAC OH OH OH COO
(2.4.1.1) UDP- HO HO OPPG
GDP- TDP-Rhamnose CH2OH NH NH NH NH N
C HO
UDP-N-Ac-Muramate
COO-
Iduronate OH
Mannuronate
3.2.1.33 2.4.1.11 HO
O
3.2.1.23 Indole-
NH
Indole
NH
5-Hydroxy- 4.1.1.28
5-Hydroxytryptamine 2.3.1.5 N-Acetyl-serotonin 2.1.1.4
N-Acetyl-5-O-methyl-serotonin Quinolinate A (1.14.16.1)
C
CH3
GSD Type V McArdle Disease GDP-Fucose O 2.4.1.21 tryptophan (SEROTONIN) (MELATONIN)
T
CMP-N-Acetyl 2.4.1.25 OH OH acetaldehyde 1.14.16.4 Phenylketonuria (PKU)
MIM 232600 H neuraminate CH2OH
CH2OH
O
5.1.3.13 O
OH
3.2.1.108 + I MIM 261600
5.1.3.12 OH OPPT
3.2.1.10 4.1.1.43
A
HO O COO + COO
GALACTOSE C
O 4.2.1.47 2.4.1.33 CO CH2CH(NH 3)COO + COCH2CH(NH 3)COO COO
CO CH2CH(NH 3)COO
CHOH 2.4.1.16
COO -
OH ADP- CH2OH CH 2COCOO NH2 NH2
R
COO CHO OCH OCH
AcNH CHOH
HO OH HO OPPG CH2OH TDP-4-Oxo- Glucose
O NH2 NH2 NH2
2.7.1.6
CH2OH OH OPPU O 4.1.99.1 NH OH OH COO COO
CH2OH 3.5.1.9
Kynurenine 1.14.13.9 3-Hydroxy
O
Formylkynurenine 3.7.1.3
3-Hydroxy 1.13.11.6 2-Amino-3-carboxy 4.1.1.45
2-Aminomuconate-
OH
I
HO 6-deoxyglucose NH
Ty rosinase
GDP-Mannose A
OH 2.7.7.43 2.7.1.6
3.1.3.29
1.1.1.158 CH2OH
O
NHCOCH 3
HO OH OPPU HO
O
Indolepyruvate kynurenine anthranilate muconate semialdehyde 6-semialdehyde
LIVER GLYCOGENOSES D HO UDP-N-Ac-
OH OPPU
CH2OH
HO OH HO OH
GDP-Glucose HO 1.13.11.11 Catechol M (1.14.18.1)
N-Ac-Neuraminate OH OP 2.4.1.22 COO H H
E Galactosamine OH
UDP-Glucose
HO O
UDP-
O
MANNOSE + COO
I

1.
(Sialate) OPPU 2.7.7.13 4.2.1.46 CH2CH(NH 3)COO 1.2.1.32 Tyrosine Negative Albinism

4.
OH NH C C CH CH2OP
S
CH2 C 2 Galactose-P CH2CH 2NH2 C-CH(OH)CH(OH)CH 2OP HOC-CH(OH)CH(OH)CH 2OP

1.
1.1.1.2
N
COO
Galacturonate
CH2OP NHAC COO

19
2.7.1.7 2.7.7.27 CH CH OH OH 1.14.12.1
Amylo-1,6-glucosidase O COO O HO OH HO O P CH 2OH NH
4.2.1.20 N N O NH2 MIM 203100
O
NH
UDP-N-Ac- Mannose-1-P Tryptamine
4.1.1.28
Indole-3-glycerol-P
H
1-(o-Carboxy phenylamino)
H 4.1.1.48
N-(5-P-Ribosyl)
2.4.2.18
Anthranilate
OOC NH 2
TRYPTOPHAN
5.1.3.7 2.7.7.34 O
3.1.3.29
Glucosamine
ACNH TDP-Glucose 2.7.7.9 5.1.3.2 HO OOC
2-Amino
(3.2.1.33) HO OH 4.1.3.20 HO OH OPPU 5.1.3.6 CH 2OP
O 2.7.7.10 COO 1-deoxyribulose-5-P anthranilate
OH
pyruvate 2.7.7.12
2.7.7.12 OH OPPU OC muconate
A Glycine dehydrogenase
OH HO COO
Glucanotransferase N-Ac-Mannosamine-6-P UDP-Glucuronate 5.4.2.8 2.7.7.24 CH 2OH
O OH P OCH 2 CH2
COO COO COO
COO COO
4.1.3.27
OOC CH 2COCOO

C
CH2OH CH2OH CH2OP HO OH HO OH
(2.4.1.25)
CH2OH
O O 4.1.3.20 O O
HOCH HCOH
OH OH
CH2 CH2 (1.4.4.2)
I
C
Mannose-6-P
HO
UDP-Galactose
OH P O OH P O O-C-COO
H
HO OH OP O O OC-COO
2.7.1.60 2.4.1.13 CH 2OP H OH
4.6.1.3
OH
4.2.1.10 OH
1.1.1.25
OH
2.7.1.71
OH
2.5.1.19
OH OH
5.4.99.5
OH Non Ketotic
3-Deoxy-D-arabino- Shikimate-3-P Shikimate-5 4.6.1.4
ACNH
GSD Type III Cori Disease HO OH Dehydro- Dehydro- Shikimate Chorismate Prephenate D
E
O
HO OH OH OPPU HO OH OP HO OH HO
enolpyruvate 3-P
OH 2.4.1.9
heptulosonate-7-P quinate shikimate Hyperglycinaemia (NKH)
MIM 232400
X
NHAC NHCOCH 3 5.4.2.3
N-Ac-Glucosamine-6-P
NHCOCH 3 Glucose-1-P O O PEP + +
S
N-Ac-Mannosamine UDP-N-Ac-Glucosamine N-Ac-Glucosamine-1-P HO OH OH CH2COCOO CH2CH(NH3) COO CH2CH(NH3) COO
OH CH2OH
CH2COO
CH2COCOO
4.2.1.51 MIM 238300
O 5.1.3.14 2.3.1 O
2.7.7.23 .4 NH2 O O
CH2COO
1.14.16.1
-OOC
S
H H OH CH2COO
Glucose-6-phosphatase COO OH OH OH OH
5.3.1.8 Glucosamine-6-P HO OH OH
COO
1.13.11.5
OH OH OH
2.6.1.5
1.3.1.13
O 5.2.1.2 2.6.1.5
HOCH 2 C C C CO CH2OH 5.4.2.2 Fumaryl Maleyl Homogentisate 1.13.11.27
Hydroxyphenyl TYROSINE PHENYLALANINE Phenylpyruvate
E
OH OP
OH H OH OH 4.3.1
(3.1.3.9) COO -
OH OH H OH
acetoacetate acetoacetate pyruvate .5
S
1.3.1.13 1.3.1.13
Fructose SUCROSE 3.2.1.26
GLUCOSE
HOCH 2 C C C C HO OH OH HO OH HO OH 3.2.1.48 +
GSD Type I Von Gierke H OH H H OH OH CHOHCH 2NHCH 3 CHOHCH 2NH2 CH2CH2NH2 CH2CH(NH3) COO- 4 .1
C
OH CH2CH2NH2
1.1.1.19 1.13.99.1 3.1.3.25 .1.2
Gulonate Glucuronate Inositol Inositol-P 5.5.1.4 5
CH=CHCOO
Disease 3.1.3.9 1.14.18.1 Ubiquinone Cinnamate A
ATP
OH H OH OH OH H OH OH OH OH OH
21
OH H OH OH 1.1.1. OH OH Menaquinone
T
OH OH
3.1.1.18 HOCH 2 C C C C CO HOCH 2 C C C CO CO 1.14.17.1 4.1.1.28 +
MIM 232200 HOCH 2 C C C C CO 1.1.1.14 H H OH H CH2OP 2.7.1.2 Epinephrine 2.1.1.28
Norepinephrine Dopamine Dopa CH2CH(NH3) COO
OH
Tyramine 1.14.13.11
E PURINE & PYRIMIDINE
H H H H H O 2.7.1.1
O O H O HOCH 2 C C C C CH2OH
2.6.1.16 (Adrenaline) (Noradrenaline)
Gulonolactone 1.1.3.8 2-Oxogulonolactone ASCORBATE ADP 3.7.1.2
CHOHCH 2NH2 HN O
6
C
OH OH H OH
. 1. 1.14.18.1
O I I
1.10.2.1 2.7
2. 1
H2 CH=CHCOO METABOLISM
OH H OH OH H OH H Sorbitol .1 HO OH CH2 OP O C Coumarate
1.1.1.45
C COO- CO COO -
1.10.3.3 .4 1.1.1.49 O OCH 3 α-Tocopherol O O
H
Glucose-6-P
OH OH CH-COO
HOCH 2 C C CO HOCH 2 C C CO HOCH2 C C CO CO CO CH(OH)COO CHOHCH 2OH (Vitamin E)
P-Glucono Normetepinephrine
+
O
NH3 O
2.7.1.3 O OH
P
H OH H 1.1.1.130 H OH H O
3-Dehydrogulonate 2, 3-Dioxogulonate Dehydroascorbate .1.1
7
lactone HO OH OH OCH 3 (Normetadrenaline) Dopaquinone I I Xanthine oxidase
L
OCH 3
H H OH H 3.1 .3.
4 NH
E
O
NADP +
OH OH
C COO -
OH 1.4 OH
4-OH-3-Methoxy- 4-OH-3-Methoxy- Plastoquinone MELANIN THYROXINE LIGNIN Tannins Plant Pigments A
POCH2 C C C
OH H OH H H OH H H 5.3.1.9 (1.17.3.2)
N
6-P-Gluconate NADPH
5.3.1.8
HOCH 2 C C C CHO HOCH 2 C C C CHO HOCH 2 C C CO CH 2OH
OH OH H OH
D-mandelate phenylglycol M Xanthinuria
T
H H OH

I
H OH H OH OH H OH OH
MONO- & DI-SACCHARIDES HOCH 2 C C C CO CH2OP NADP + CH2OP
O L-Xylose 4.1.1.34 D-Arabinose 5.3.1.3 D-Ribulose 2.7.1.47
O
OOC-CH-CH 2COO MIM 278300
N
OH OH H H H HO NHCOCH 2NH2 NH NH N OOC N O
1.1.1.44 HNCO C N C N
S Fructose-1-P 2.2.1.1
OH H H OH H OH H CO CH2OH H 2C H 2C HC C C
POCH2 C C C CHO CHO CH CH H 2N
E
CH CH
OC HN C H 2N C C H 2N C
E HOCH 2 C C C CH2OH HOCH 2 C C CO CH 2OH POCH2 C C CO CH2OH OH OH H N N C N
NADPH NH NH H2 N N RP
Sucrase-isomaltase Fructose-6-P
RP RP H 2N
S
H H H
H OH OH H OH H OH 5.1.3.1
OH OH
Glycinamide- 2.1.2.2 Formyl 6.3.5.3
RP
Formyl 6.3.3.1 5-Amino 4.1.1.21 5-Amino-4-imidazole
RP RP
5-Amino-4-imidazole 4.3.2.2 5-Aminoimidazole 6.3.2.6 Hypoxanthine guanine
S L-Arabitol L-Xylulose
2.7.1.53
L-Xylulose-5-P HOCH 2 C C C CH2OH H H
ribosyl-P glycinamide-R P glycinamidine-R P imidazole-R P carboxylate-R P (N-succinylcarboxamide)-R P carboxamide-R P
O
C C N
(3.2.1.10) OH OH H H OH H H OH H OH OH OH
Ribitol
POCH2 C C CO CH2OH ATP H2 N
HCO
CH
phospho-ribosyl transferase
Sucrose-Isomaltose HOCH 2 C C C CHO HOCH 2 C C C CH 2OH HOCH 2 C C C CHO OH OH H H 2.7.1.11 NH2 H2N OC NH
O
NH O O
2.4.2.8 2.1.2.3 NH
C
N RP (2.4.2.8)
D-Ribulose-5-P C CHO 3.1.3.11 H2NCONH 2 H 2N COO
HN
C
C C N
C N
Formylamido-
Malabsorption H H OH 1.1.1.10 OH H OH
2.7.1.47
OH H OH POCH 2 C
ADP 6.3.4.13 Urea CO
OC C
CO CO HN C CH HN C CH 3.2.2. 2 Inosine 3.1 .3.5 imidazole- HGPRT Deficiencey, Primary
L-Arabinose 5.3 Xylitol D-Xylose H H H OH OH OC C N H NH OC C
NH OC C HC C
Erythrose-4-P
N H NH N
MIM 609845 OH H H
.1.
4 OH OH OH OH HOCH 2 C C C CHO 5.1.3.1 3.5.3.4 H
3.5.2.5
H
1.7.3.3
H 1.17.3.2 NH NH
1.1.3.22
N NH
2.4.2.1 carboxamide-R P Gout, Lesch-Nyhan Syndrome
OH OH OH
H H HO
+ Allantoate Allantoin URATE Xanthine Hypoxanthine 3.5.4.10 O
HOCH 2 C C C CHO HOCH 2 C C CO CH2OH POCH2 C C CO CH OH CO CH2OP CH2(NH3)COOH NH2 N
MIM 308000
D-Ribose
C C C
2 POCH 2 NH2 N
3.5.4.4 C

GLYCINE
4 HN C
.1.
N
P
H OH OH H H H H H OH N CH NH CH
2.6 .10
OH OH H N OOC-CH-CH 2COO
2.7.1.16 5.3.1.6 2 N
Lactase L-Lyxose L-Ribulose L-Ribulose-5-P 5.1.3.4 CH O O O HC C
Adenosine HC C
Fructose-
N
.1 N N RP
U
N
POCH 2 C C CO CH 2OH
4.1.2.- CH2OP
1.4 20 O HC N
N C CH NH
O 1. N -O P~O P~O P O CH
INOSINE-P
NH2
H OH 2.7 2.2.1.2 1. 2 O HC C N
Adenosine deaminase
1:6-bis-P Fumarate Aspartate
C
1.1. OH H
2. O P O CH2 O
(3.2.1.23) (3.2.1.108) R
. 1.1 N N RP(P) C
1
D-Xylulose-5-P
.9 O O O N CH
HOCH 2 C C CO CH2OH 5 OOCCH 2NHCH3 HC C
(IMP)
Lactose Intolerance OH H 2 . 7. 1 . 1 7 Sarcosine OH OH 2.7.4.3 N NH RP
I (3.5.4.4)
ATP
O 2.7.4.6 2.7.4.4
Adenylo-
O
ADP 4.3.2.2
OH OH 6.3.4.4
D-Xylulose Glyoxylate OH
4.6.1.1 ADENOSINE-P N
N
C
MIM 223000 P-Ribosyl 1.5.99.2 Cyclic AMP (AMP) succinate 3.1.4.6
HN C CH
Severe Combined Immuno-
amine
E
H H H 1.4.4.2 1.17.4.1 1.1.1.205 OC C
H+
H+
PHOTO- H+
H H H OH
OOCCH 2N(CH3)2 2H-folate d-ADP N
H
N RP Deficiency (SCID)
S
POCH 2 C C C CHO 2.4.2.1
H+
2H+ Photophosphorylati SYSTEM n-cyc
lic electr POCH2 C C C C CO CH2OP 4.1.2.13 Dimethylglycine 2.7.4.6 XANTHOSINE-P MIM 102700
Galactokinase PHOTO-
Cy
clic on l No (ele tric curre on fl
OH OH OH
1.5.1.3 7.7 DNA 2.7.7.7
d-GTP 2.4.2.15
d-GDP
3.5.4
.3 (XMP)
D-Ribose-5-P
OH OH OH H
H+ o Sedoheptulose-PP 2.1.1.5 2.7. O
SYSTEM
2H+ nt)
2.7.7.7
Guanine
Ferredoxin 4H-folate 1. 1 6.3.4.1 C N
II
(2.7.1.6) P 7.4
H+ 2.4.2
w

*- 2.2.1.1 OOCCH2N(CH3)3
+
d-ATP 2.7 d-CTP .1 .1 6.3.5.2
HN C CH

H 2e-
2e-
2e H+ .7.7 H2 N C C
.
PQ
Galactose Kinase Deficiency _
Betaine N N RP

O
PQ
POCH 2CHOHCHO FOLIC ATP 2.7.7.6
RNA 2.7.7.6
GTP 2.7.4.6
GDP 2.7.4.8
GUANOSINE-P
3-P-Glyceraldehyde
PQH2
MIM 230200 QB 1e- 1e-
PQ
H+ 1.2.1.8 ACID 2.7
TTP 2.7. 1.17.
T NADP+ HOCH2COCH2OP .7.6
Dihydroxy-
Fe-S 2.2.1.1 4.1 (GMP)
PQH2 Cyt bf
c PC 1 .1
+ 1.4.4.2 C1 4. 6
O 5.3. 2.4.2.14 OHCCH 2N(CH3)3
P
QA 2e- A1 H+
acetone-P Pi 6.3.4.7 Betaine POOL NH2

S
PC PC H+
Pi 4.2.1.
20 O 2.7 TDP
O O C
1.1 aldehyde Y
Cyt bc O C N CH
(Glycerone-P) 4.1.2.5 .7.
NADPH+H+
Pheophytin
5.3.
C
NAD+
Chl.A0
Galactose-1-phosphate C 6 2.7 C-CH3 C
. .4.9 HN
HN CH-CH3
Y
_ 2e- HN C CH3 HN CH CH
CH3 OC
2.1.1.45
R FOLIC ACID
P680 2PQ 2PQ 2.7.1.28 CH3 OC CH 2 OC CH OC CH N
1.1.99.1 OC CH
N
DP
uridyl transferase Chl.a 2PQH2 P700 Pi ADP + H2NCH 2 CHCOO H2NCONHCH 2CHCOO NH
N
DP N DP
2.7.4.14
I
2e- NH 2.4.2.4 3.5.4.12
2e- H+
Glyceraldehyde
HOCH2CH2N (CH3) 3
3-Amino- ß-Ureido Dihydro Thymine THYMIDINE-P d-UMP d-CMP d-CDP
T
Fe-S 2e- Cyt.f
(2.7.7.12) Mn H+ 1.2.1.12 CHOLINE 3.5.1.6 3.5.2.2 1.3.1.2
H+
Ribulose-1,5-bis-P isobutyrate isobutyrate thymine O O
M
H
1.2.1.13 +
α

Pi NH 2
α

2.4.
α

4H+ 2. C
NADH
HOCH2CH(NH3)COO
1

1. C 2 .4 C Dihydrofolate reductase
4.2.1.22
I
HN CH2 HN CH
Classical Galactosaemia
a

ADP SERINE 1 N CH
E
H+ H+ H+ 1.17.4.1
H2O
8
β

Translocated protons .1
8

CO2 3
2

H+ OC CH2 OC CH
β

OC CH
D (1.5.1.3)
2.6.1.51
1

4.1.1.11 H2NCONHCH 2CH 2COO

H+ H+
S
CH2OP NH N H
MIM 606999 H+Protons from Water
H+ H+ H+ H+ H+ H+ H2NCH 2CH2COO
3.5.1.6 Carbamoyl 3.5.2.2 Dihydro- 1.3.1.2 3.5.4.1 NH
CDP
3

O
3

1.4.1.7
H+ γ ATP Fixation POCH 2CHOHCOO P
ß-Alanine Uracil Cytosine
I O2 H+ H+ H+
2.7.6.1 1:3-bis-P-Glycerate ß-alanine uracil O
NH 2
I Megaloblastic Anaemia
H+

εε

H+
HOCH2COCOO
2

C
c

H+ H+ H+
2

-OOC
CH 2.7.4.6
H+ O O
S N
H+ H+ H+ H+ H+ β2 OPOP 3.1.3.3 O O C
Hydroxy-
α

N
α

H+ C C
H+
NH2 CH2 C C HN CH CH
HN CH MIM 126060
ATP
CH2
ATP OH OH CH HN CH
THYLAKOID LUMEN
3

OC
pyruvate
HN HN 2.4.2.9
E
α

H+

P-Ribosyl-PP OC CH-COO OC CH N
OC CH-COO C-COO OC C-COO OC N CH N
THYLAKOID MEMBRANE
+ N OC N RPPP
RPPP
ADP ADP P OCH2CH(NH3)COO H NH NH RP RP 6.3.4.2
S
STROMA 3.6.1.34 Phospho- Carbamoyl Dihydro Orotate Orotidine-P Uridine-P UDP URIDINE- CYTIDINE-
3.5.2.3 2.7.4.6 triphosphate
CHLOROPLAST OUTER MEMBRANE 2.7.2.3 serine aspartate orotate 1.3.1.14 2.4.2.10 4.1.1.23 (UMP) 2.7.4.4
triphosphate
1.1.1.29 (UTP) (CTP)
COO
HO HO
COO ATP 2.6.1.52
2.6.1.22
NH2 NH2
COO H H H H H H H H H H CONH 2
+ C N OC N N H H
PEROXISOMAL DEFECTS Linoleate 1.14.99.25
Arachidonate 1.13.11.34 Leukotriene B4
P OCH2 C C C C N C P OCH 2 C C C C NH C P OCH 2 C C CO CH2 NH C
γ-Linolenate POCH2CHOH COO
1.1.1.95
P OCH2COCOO
P-Hydroxy-
CH CH CH
P OCH 2 C C C CH
3-P-Glycerate
OH HC C HC C HC C
5. O OH OH N OH OH N OH OH N
COO N N N
1.1 3.99
OH OH HN N
1.3.1.35
COO COO pyruvate O
3.6.1.31
RP(PP)
3.5.4.19
O RP RP
C ORGANIC ACIDURIAS
4.9 .3
9.1 P-Ribosyl-ATP P-Ribosyl-AMP P-Ribosylformimino P-Ribulosylformimino Imidazole H

L
O 2.4.2.17
5-aminoimidazole- 5.3.1.16 5-aminoimidazole-
COSCoA
Alanine-glyoxylate CO-S-ACP
HO OH 5.3.99.5
HO
OH 2.7.1.31 glycerol-P
aminotransferase I Oleoyl-CoA Palmitoleoyl-ACP Prostaglandin PGE 2 Thromboxane B2 POCH2CH(OP) COO
HC C CH 2CHCOO
+ carboxamide-R P +
carboxamide-R P+
1.14.99.5 2, 3-Diphospho- 5.4.2.1 HOCH2CH(OH) COO N NH NHCOCH 2CH2NH2 HC C CH2CH(NH 3)COO + HC C CH2COCH 2OP
Propionyl-CoA carboxylase
P
HC C CH2CH(NH 3)CHO HC C CH 2CH(NH 3)CH2OH HC C CH2CH(NH 3)CH2OP
(2.6.1.44) COSCoA CH3(CH2)14CH=CHCOS-CoA CH3(CH2)14CH(OH)CH 2COS
COS-CoA CH3(CH2)14COCH 2COS-CoA
glycerate Glycerate C
H Carnosine N NH
N NH N NH N NH
N NH
4.2.1.19

I Stearoyl-CoA Dehydrostearoyl-CoA OH-Stearoyl-CoA Oxostearoyl-CoA CH C

CH CH CH H (6.4.1.3)
Hyperoxaluria Type 1
CH 3COO
HISTIDINE Histidinal Histidinol Histidinol-P Imidazole
D
CH3(CH2)14COCH 2COS-CoA
Endoplasmic Reticulum ACETATE 4.1.1.22 1.1.1.23 1.1.1.23 3.1.3.15 2.6.1.9
acetol-P Propionic Acidaemia
MIM 259900 CH3(CH2)14COS-ACP CH 3(CH2)14COSCoA HOCH2CH(O P)COO C
4.3.1.3
Chain elongation Mitochondrial HC CH2CH2NH2 MIM 606054
B
Palmitoyl-ACP Palmitoyl-CoA 2-P-Glycerate 1.2.1.4
N
C
NH
OOC
HN NH
CHCH 2CH2COO OC
N NH
CHCH 2CH2COO CH
N
C
NH
CH CHCOO
4.3.1.3
I 1.3.1.9
CH3(CH2)n CH=CHCOS-CoA
4.2.1.60
CH 3(CH2)n CH(OH)CH 2COSACP
1.1.1.100
CH 3(CH2)n COCH 2COSACP H HISTAMINE CH
3.5.2.7 CH
4.2.1.49 CH
ACYL-ACP 2, 3-Enoyl-ACP 3-OH-Acyl-ACP 3-Oxoacyl-ACP Formimino Imidazolone Urocanate Methylmalonyl-CoA mutase
O 4.2.1.61
1.3.1.10 2.3.1.41 CH3CH 2OH
4.2.1.11 ETHANOL glutamate propionate
S CH3(CH2)5CH=CHCH 2COSACP 2.1.3.2 2. 3 (5.4.99.2)
.1.3
4.2.1. 0
3, 4-Decenoyl-ACP
Y
CH3(CH2)6CH2CH 2COSACP 60 CH3(CH2)6CH(OH)CH 2COSACP 1.1.1.100 CH 3(CH2)6COCH 2COSACP +
Decanoyl-ACP 3-OH-Decanoyl-ACP 3-Oxo-Decanoyl-ACP Glycine CH2CO-OCH2CH(NH 3)COO 2- Methylmalonic Acidaemia
1.3.1
.9
1.1.1.1
Acetylserine HS HSO - Phosphoadenylyl- Adenylylsulphate SO 4
N
CH3(CH2)6CH=CHCOSACP
1.8.99.1 1.8.99.2 2.7.7.4
2, 3-Decenoyl-ACP 4.2.1
.60 2.3.1.41 CH2=C(OP ) COO +
sulphate 2.7.1.25 (APS) MIM 251000
T (PAPS)
CH3CHO
P-enolpyruvate 4.2
S-CH 2CH(NH 3)COO
CH 3(CH2)2CH 2CH2COSACP CH3(CH2)2CH=CHCO-S-ACP CH3(CH2)2CH(OH)CH 2COSACP CH3(CH2)2COCH 2COSACP Acetaldehyde . 99
+
+
LIPID METABOLISM H Hexanoyl-ACP
1.3.1.9
2, 3-Hexenoyl-ACP
4.2.1.59
3-OH-Hexanoyl-ACP
1.1.1.100
3-Oxo-Hexanoyl-ACP
+
S-CH 2CH(NH 3)COO
+
.8 HSCH 2CH(NH 3)COO
CH2CH(NH 3)COO
+ 4.2.1.22
4.2.1.22
+ CH 3 SCH CH CH(NH )COO
2 2 3
4.4.1.1 HSCH 2CH2CH(NH 3)COO
2.6.1.44 HS SCH 2CH2CH(NH 3)COO 2.1.1.13 1.2.1.32
E CH3CH=CHCO.S-ACP 2.3.1.41 CYSTINE 1.6.4.1 CYSTEINE
4.2.99.9
Cystathionine 4.4.1.8
Homocysteine 2.1.1.14
METHIONINE Isovaleryl-CoA dehydrogenase
Hydroxymethylglutaryl CoA S CH3CH2CH2COSACP CH3CH=CHCO-S-ACP CH3CH(OH)CH 2COS-ACP CH3COCH 2COSACP ADP .1.
1
1.13.11.20 Adenosyl
(1.3.99.10)
1.3.1.9 4.2.1.58 1.1.1.100 4 .1
I 4.4.1.15 3.3.1.1 2.5.1.6
Butanoyl-ACP Crotonoyl-ACP 3-OH-Butanoyl-ACP Acetoacetyl-ACP HOOCCH 2CO-S-ACP Adenosyl + Isovaleric Acidaemia
Malonyl-ACP Glutamate + CH 3 SCH CH CH(NH )COO
S
lyase CH2OH CH2OH 2.7.1.40 + + SCH 2CH2CH(NH 3)COO + 2 2 3
R-CH2COO 1.1.1.8
S-Adenosyl S-Adenosyl
HO 2SCH 2CH(NH 3)COO HO3SCH 2CH(NH 3)COO MIM 243500
2.3.1.41
ATP
HOCH HOCH
HSO3- Cysteine Cysteate
FATTY ACID
(4.1.3.4) 5 2.1.1.10
CH3(CH2)n+2COS-CoA CH2OH CH2O P 2 4.4.1.1 homocysteine methionine
6.2.1.3 3.1.2.20 . 1. sulphinate
ACYL-CoA 2.7.1.30 2.3.1.39 4.1 6.3. 2.1.1.20
Glycerol 3-P-Glycerol 3.7 HO2SCH 2COCOO .1.
29
2. 2 CH2SH (SAM)
Ketone Synthesis Defect (Cytosol) KETONE BODIES 3-Sulphinyl
+
OOCCH(NH 3)CH2CH2CONHCHCOO
PYRUVATE
2.3.1.15 2.3.1.51
MIM 246450 CH3COCH 3 CH3CH(OH)CH 2COO
1.4.1.1 + pyruvate HO2SCH 2CH2NH2
1.8.1.3
HO3SCH 2CH2NH2 γ-Glutamylcysteine
Hypotaurine Taurine
HOOCCH 2CO-SCoA
2.3.1.7
CH2O-CO-R Acetone 3-OH-Butyrate Malonyl-Co-A 1.2.4.1
2.6.1.2 CH3CH(NH3)COO Glycine
Carnitine 3.1.1.3 CH2O-CO-R CH2O-CO-R
2.7.8.5 2.3.1.12 ALANINE 4.1.2.5
4.1.1.29
+ 6.3. +
CH2SH

L
R’-CO-OCH 1.8.1.4 OOCCH2CH2COOCH2CH2CH(NH 3)COO 2.3 OOCCH(NH 3)CH2CH2 CONHCHCONHCH 2 COO
4.1.1.4 1.1.1.30
O-Acyl-carnitine
R’-CO-OCH R’-CO-OCH 4.1.3
Medium chain acyl CoA CH2O-CO-R" CH 3CO-S-ACP 4.1.1.9 .18 Succinylhomoserine Glutathione
I
CH2OH 4.1.1.12
CH2O P CH3COCH 2COO
Acetyl-ACP Bile Acids
Triacylglycerol Diacyl Acetoacetate 1.1 + +
Phosphatidate
+
P .1.2 CH3CH(OH)CH(NH 3)COO
dehydrogenase O-Acyl-carnitine FAT 2.3.1.20 glycerol 3.1.3.4 2.7.1.107 7 2.6.1.18 POCH 2CH2CH(NH 3)COO HOCH 2CH2CH(NH 3)COO
3.1.2.11 2.3.1.38
THREONINE O-Phospho- 2.7.1.39Homoserine AMINO ACID METABOLISM
I
HOCH 2 C(CH 3)2COCOO
3.1.1.28 CH3COCOO- CH3CH(OH)COO 4.1.2.12
(1.3.99.3) 4.2.99.2
homoserine
2.3.1.46 HCHO Oxopantoate
D
CH3(CH2)n CH2CH2COSCoA PYRUVATE LACTATE 4.1.3
. CH3
ACYL-CoA OHCCH 2COO- 18 CH3 CH3 +
MCAD Deficiency 1.1.1.3 CHCH(NH 3)COO 1.1.1.169
Malonic
CH3(CH2)n CH=CHCOSCoA CH3(CH n CH(OH)CH 2COSCoA CH3(CH2)n COCH 2COSCoA 4. COO C (OH)CH(OH)COO CHCOCOO
(Mitochondria) 1.3.99.3
2, 3-Enoyl-CoA 4.2.1.17
3-OH-Acyl-CoA 1.1.1.35
3-Oxoacyl-CoA 2.3.1 NAD HOH 2. 4.2.1.16 CH3 Cystathionine synthetase
D
1. CH3 CH3 2.6.1.32
MIM 607008 .16 52 semi- CH3COC(OH)CH 3
1.1.1.86
2-3-Dihydroxy 4.2.1.9 2-Oxo- 1.4.1.8 VALINE
HOCH 2 C(CH 3)2CH(OH)COO
CH3(CH2)2COCH 2COSCoA ATP 1.2.4.1
GDP aldehyde 2-Acetolactate Pantoate (4.2.1.22)
E
CH3(CH2)2CH2CH2COSCoA CH3(CH2)2CH=CHCOSCoA CH3(CH2)2CH(OH)CH 2COSCoA 1.1.1.35
1.3.99.3 4.2.1.17 2.3.1.
2.3.1.12
Hexanoyl-CoA 2, 3-Hexenoyl-CoA 3-OH-Hexanoyl-CoA 3-Oxohexanoyl-CoA 16 CO2 3.1.3.43
CO2
1.2.1.18 CH3CH2COCOO isovalerate isovalerate ß-Alanine
G 4.1.1.32
Oxobutyrate 1.2.4.4 3.5.1.22 Homocystinuria
6.4.1.1 CH 6.3.2.1
R
CH3CH2CH2COSCoA CH3CH=CHCOSCoA CH3CH(OH)CH 2COSCoA CH3COCH 2COSCoA 2.3.1.9 CH3 3 CH CH 3 3
1.3.99.2 4.2.1.55 1.1.1.157 MIM 236200
Butanoyl-CoA Crotonoyl-CoA 3-OH-Butanoyl-CoA Acetoacetyl-CoA NADH+H+ HOCH 2CHCOO HOCH 2CHCOS-CoA- CH2 = CCOSCoA CH3CHCO-SCoA HOCH 2 C(CH3)2CH(OH)CO NHCH 2CH2COO
A
3.1.2.4
Odd C Fatty acids CH3COSCoA
GTP 4.1
.3.1 3-Hydroxy- 3-Hydroxy- 4.2.1.17 Methyl 1.3.99.3 Isobutyryl-CoA PANTOTHENATE
8
D
CH 3CH2CH 2CH2COSCoA CH3CH2CH=CHCOSCoA CH3CH2CH(OH)CH 2COSCoA CH3CH2COCH 2COSCoA
4.1.3.5 ACETYL-CoA
CH3
.31 isobutyrate Isobutyryl-CoA acrylyl-CoA
Pentanoyl-CoA Pentenoyl-CoA 3-OH-Pentanoyl-CoA
1.1.1.35
3-Oxopentanoyl-CoA NAD+ OHCCHCOO 1.1.1 2.7.1.33 Branched chain ketoacid
A 2.6.1.44
Methylmalonyl CH3
CH 3
+
T 2.6.1.4 semialdehyde CH3
CHCH(NH 3)COO P OCH 2C(CH 3)2CH(OH)CONHCH 2CH2COO
decarboxylase
COO C(OH)CH(OH)COO CHCOCOO
4-P-Pantothenate
I
CH3CH2
SPHINGOLIPIDOSES CH2O-CO-R CH 2O-CO-R CH 2O-CO-R OHCCOO 4.1.3.5
1.1.1.39 CH3COC(OH)CH 2CH3 CH3CH2 CH3CH2 2.6.1.32 Cysteine (1.2.4.4)
OH OH Glyoxylate 4.1.3.4 2-Aceto-2- 4.2.1.9
2-Oxo-3-methyl 6.3.2.5
O 2:3-Di-OH-
2.7.7.41
R'-CO-OCH O R'-CO-OCH O COO R'-CO-OCH O -OOCCOCH COO-
2 2.3.1 ISOLEUCINE COO
Maple Syrup Urine Disease
OXALOACETATE .1
hydroxy- 1.1.1.86 3-methylvalerate
CH2COO
+
NADH+H+
2.6.1.1 6 valerate
N CH2O-PO 1.3.99.7 CH 2O PO CH 2CHNH 3 CH2O POCMP 1.1.1.79 P OCH 2C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCHCH 2SH

- - Serine 1.2.3.5
CH3C(OH)CH 2COSCoA
butyrate 4-P-Pantothenylcysteine MIM 248600
Acid-ß-glucosidase O HO OH O
2.7.8.8
O
ß-OH-ß-Methyl- 4.1.3.7
1.2.4.4
PHOSPHATIDYL CDP-diacyl HOCH 2COO
glutaryl-CoA
4.2.1.
18 NAD+ 4.1.3.8
CH2COO- CH3 CH 3 CH3 CH 3

(3.2.1.45) OH
Inositol glycerol Glycolate C(OH)COO- CH3COCHCOSCoA CH3CH(OH)CHCOSCoA CH3CH=CHCOSCoA CH3CH 2CHCOSCoA 4.1.1.36
Phosphatidyl SERINE 2.7.8.11 CH2COO-
2-Methylaceto-1.1.1.35 2-Methyl-3-4.2.1.17Tiglyl-CoA 2 Methylbutyryl-
Gaucher Disease inositol CH2O-CO-R
1.2.1.21 HOOC-COOH CITRATE acetyl-CoA hydroxy- 1.3.99.3
CoA
CH2O-CO-R CH 2O-CO-R’ Oxalate 1.1.1.34
FMN I P OCH 2C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCH 2CH 2SH
R'-CO-OCH O O HCO-CO-R R'-CO-OCH O 2.7.8.5 HOCH 2CHO
4.1.3.2
4.2.1.3 butyryl-CoA 4-P-Pantetheine
MIM 230800 P 4.1.1.65 Glycol
I -OOCCHO CH 3CH2COSCoA
Propanoyl-CoA
CH 2O-CO-R
Glyoxylate CH(OH)COO-
CH2 O-POCH 2CH(OH)CH 2 O-P-OCH 2 CH2O-PO CH 2CHOHCH 2OH
2.7.7.3
- - - aldehyde CH2COO
H
O O
Cycle CHCOO-
1.6.5.3

R'-CO-OCH O 1.1.1.37 2.1.3.1 +

COOH COOH
Cardiolipin Phosphatidylglycerol
O CH3C(OH)CH 2CHO -
2COO (CH3)2CHCH 2 CH(NH 3)COO
FMNH2 6.4.1.3
O
+ 4.1.1.41
Hexosaminidase A CH 2O P OCH 2CH2 NH 3 1.4.3.8 Mevaldate ISOCITRATE (CH3)2CHC(OH)CH 2COO (CH3)2CHCHCH(OH)COO (CH3)2CHCH 2COCOO 2.6.1.6 ADP- OCH2 C(CH 3)2CH(OH)CONHCH 2CH2CO NHCH 2CH2SH
-
+ + 5.1.99.1
2-Isopropyl- 3-Isopropyl- 1.1.1.85 Oxoleucine LEUCINE Dephospho-Coenzyme A
S
O CPP- OCH 2CH2 NH3 POCH2CH2 NH3 + +
(3.2.1.52) Phosphatidyl
2.7.8.1 CDP-Ethanolamine 2.7.7.14
Ethanolamine-P 2.7.1.82 HOCH 2CH 2NH 3
1.1.1.32
2H 4.1.3.1 1.1.1.41 CH3 malate 4.2.1.33
malate 1.4.1.9 GABA METABOLISM
P
2.7.1.24
CH2OH Ethanolamine 2Fe -S CH3CH(OH)CH2CO.SCoA
1.2.4.4
ethanolamine (5 Clusters) MALATE OOC-CH-COSCoA CH3 CH3 NEUROTRANSMITTER
H
Tay Sachs Disease 4.2.1.1
Methylmalonyl-CoA
CH2O-CO-R HOCH O 8
CEPHALIN
A
+ CH3COCH 2CH2N(CH 3 )3 -OOCCOCH CH COO- OOCCH 2C = CHCOSCoA CH3C = CHCOSCoA (CH3)2CHCH 2COSCoA P-ADP- OCH 2 C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCH 2CH2SH
HOCH O
4H+ 6.4.1.4
4.1.1.71
Acetylcholine CH C(OH)CH CH OH
CH2COO
O 4H+
2 2
MIM 272800 CH2OPO CH2CH 2N(CH 3)
2-OXO- 3-Methyl- 3-Methyl- Isovaleryl-CoA DEFECTS
Coenzyme A
+
CH2OPO CH2CH2N(CH 3)3 - O
Glycerophosphocholine ASPARTATE 2.7. 4.2.1.18
glutaconyl-CoA crotonyl-CoA 1.3.99.10 M
GLUTARATE
3 2 2 1.6. 5.3
3.1.1.5 3. 1
L
2.1.1.17
O - Lysolecithin .4.2 Mevalonate 2H+ 4.2.1.2
2.4
1.1.1.3
I
CH2OCH=CHR 2.1.1.71
CH 2 O-CO-R 3.1.4.4 or
I 2.3.1.6
R-CO-OCH O 1.2.4.2
3.1.1.32
N
O 2.7.1.36 2.3.1.61 +
Sphingomyelinase + R'-CO-OCH
+ 3.1.4.3 2H+ - Succinic semialdehyde
P CH2OPO CH2CH2N(CH 3)3 2.7.4.2 OOCCH=CHCOO- P OOCCH 2CH(NH3)COO +
CH2OPOCH2CH2N(CH 3)3
Aspartyl-P
+ + +
- FUMARATE O
4.3.1.1 H H2
O O - CPP-O CH2CH2N(CH 3)3 OCH 2CH2 N(CH3)3 HOCH 2CH 2N(CH 3)3 1. 2 C C
OOCCH 2CH2CONH NH3
dehydrogenase
(3.1.4.12) I Choline LECITHIN CDP-choline 2.7.7.15
Choline-P CHOLINE CH2COO UQH2 6.3.5.4 .1.
11 +
HC CH 2 H 2C CH2 OOCCH 2CH2CONH OOCCHCH 2CH2CH 2CH-COO
+
OOCCH-CH 2CH2CH2CHCOO
+
plasmalogen 1.3.1.35 2.7.8.2 2.7.1.32 OOCC CH-COO OOCC CH-COO
Niemann-Pick Disease D 2.7.
8.3
3.1.4.1
2 FADH2 -OOCCH2CH2CO.SCoA OHCCH 2CH (NH3)COO N N OOCCOCH 2CH2CH2CH-COO NH3 NH 3 (1.2.1.24)
5.4.99.2 A
CH3C(OH)CH 2CH2OPP +
Serine +NH Diphospho- SUCCINYL-CoA Aspartyl 4.2.1.52 2, 3-Dihydro-1.3.1.26 Piperideine- N-Succinyl- 2.6.1.17 N-Succinyl-2, 6 3.5.1.18 Diamino-
S
+ + + OOCCH 2CH2CHO
Fe-S 4-Hydroxybutyric Aciduria
C
1.3.5.1
MIM 257200 2.3.1.50 3 NH 3 NH 3 NH 3
mevalonate 6.2.1.4 Succinic Semialdehyde dipicolinate 2, 6-dicarboxylate 2-amino-6-oxo- diaminopimelate pimelate
CH3(CH2)12CH=CHCH(OH)CHCH 2O- Galactose
CH 3(CH2)14COCHCH 2OH CH3(CH2)14CH(OH)CHCH 2OH CH3(CH2)12CH=CHCH(OH)CHCH 2OH
semialdehyde pimelate
Dehydrosphingosine Sphingosine 4-Sphingenin Psychosine Cyt.b FAD
-OOCCH2CH2COO-
SUCCINATE
1.2.1.16
1.2.1.24 OH
+ + + + + + .7
5.1.1 0
I MIM 271980
D
1.1.1.102
UQ
UDP-Sugars Acyl-CoA
H2N(CH 2)4 CH(NH 3)COO .2
2.4.1.23 II Glycine (CH3)3NCH2CH(OH)CH 2COO (CH3)3N(CH 2)3 CH2CH(NH 3)COO (CH3)3N(CH 2)3 CH2CH(NH 3)COO
4.1.1
Gangliosides Acyl-CoA + Carnitine N6-Trimethyl- N6-Trimethyllysine LYSINE
2.4.1.62 3.5.1.23 4.1.1.33 1.5.1.7 - 10
S
2.3.1.37 H2NOCCH 2CH (NH3 COO
NHAcyl O 3.2.1.52 UDP-Galactose NHCOR UQH2 2H+ Asparagine 2.6.1.19 1.14.11.1
3-OH-lysine
1.14.11.8 4-Aminobutyrate
+ NHCOR COO
CH3(CH2)12CH=CHCH(OH)CHCH 2O PO CH2CH2N(CH 3)3
O -
CH3(CH2)12CH=CHCH(OH)CHCH 2OH
CH3(CH2)12CH=CHCH(OH)CHCH 2O- Galactose CH2 5-Amino- NH CHCH 2CH2COO aminotransferase
levulinate
+ + +
SPHINGOMYELIN 3.1.4.12 Ceramide 3.2.1.45 Cerebroside CH3C-CH2CH2OPP
2UQH2 OOCCH 2CH 2CH2COSCoA OOCCH 2CH2CH2COCOO OOCCH 2CH2CH2CH (NH3) COO OHCCH 2CH2CH2CH (NH3) COO CH 2CH2CH2CH2CH (NH3) COO
(2.6.1.19)
3.2.1.46 UQH2 1.3.99.7
Glutaryl-CoA 2-Oxoadipate 2-Aminoadipate 1.2.1.31 2-Aminoadipate Saccharopine
1.3.99.7 Isopentenyl-PP 1.10.2.2 + 4.1.1.70 2.6.1.39 1.5.1.9
CH3
(C5) 4H+
R-CH(NH3) COO
OOCCH 2CH2CH2NH2 semialdehyde GABA Transferase Deficiency
I 2-AMINO ACID
2e- 2UQ_ 2H+ Adenosyl
RESPIRATORY CHAIN 4-Aminobutyrate
.
CH3C = CHCH 2OPP
Lycopene (C40) Phytoene Dimethylallyl-PP MIM 137150
S III _ (GABA)
R-CO-COO CH3-SCH 2CH2CHNH 2
DEFECTS (C40) 1e- H2N(CH 2)3NH(CH2)4NH (CH2)3NH2 +
To Brain - VISION (C5) 2.5.1.1 2e- UQ. 2-OXO ACID Spermine S-Adenosylmethyl
O
T RA

5
Fe-S +
1.
1 .1
thiopropylamine LEGEND
hv CH 3 CH3
P 4.
2.6.1.- OOCCH 2CH 2CH (NH3) COO
ß-CAROTENE (C40) 1e-
NS

2.5.1.32 (Decarboxylated SAM)

2.5.1.29
Cyt.bL Cyt.bH MI
GLUTAMATE
CH3C= CHCH 2 CH2C= CHCH 2OPP
R NA
A

Cytochrome c oxidase Metarhodopsin Rhodopsin O

CH2OPP Geranyl-PP T IO N 2.7.2 +
2.5.1.22 Carbohydrates Amino Acids
.11 POOCCH CH CH(NH
E 1.13.11.21 CH3O CH3
Geranyl-geranyl-PP (C10) Cyt.c1 A A 2 2 3 ) COO H2N(CH 2)4NH (CH2)3NH2
Biosynthesis Biosynthesis
(1.9.3.1) COO- Opsin (C20) Glutamyl-P Spermidine Degradation Degradation
N
CH3O n
2UQ UQ
Complex IV Retinoate
O Ubiquinone 2.5.1.10 1.10.2.2
O 1.2.1.36
CHO (Coenzyme Q) OPP Cyt.c 1.4.1.2 1.4.1.14 3.5.1.2
6.3.1.2 1.2.1.41
Lipids Purines &
MIM 220110 I trans-Retinal 2.5.1.16 Pyrimidines
CH2
5.2.1.3
11-cis-Retinal CHO Menaquinone CH2OH Biosynthesis UREA CYCLE DEFECTS
D
Light Phytol (C20) or ting ATP NO3- NH4+ + Degradation Biosynthesis
nsp 3.6 .1.34 synt H2NOCCH 2CH2CH (NH3) COO + H2NCH2CH2CH2CH2NH2 (HYPERAMMONAEMIA)
Retinol esters 1.1.1.105 1.1.1.105 Plastoquinone Cu Cu tra h Glutamine OHCCH 2CH 2CH(NH3) COO
Putrescine Degradation
S +-
B 1.6.6.1 1
CH3 .7.
O Farnesyl-PP oscp 1.7.99.4 1.7 .6.4 ATP Glutamic
as

HO
H

CH 3
NO2-
1.6 .1
CO2 semialdehyde
e

2.3.1.76 (C15)
CH2OH CH 3 O 2H+ 8.
6 Vitamins Co-enzymes & Hormones
3.1.1.21 Heme a
S 6.3.4.16
CH2OH CH3
5.2.1.7 1.
1
6.3.5.5 CH3COCOO OHCCOO Biosynthesis Degradation Carbamoyl phosphate
trans-Retinol 11-cis-Retinol Phylloquinone
O CH2 CH2
F1 Pyruvate Glyoxylate
5

α-Tocopherol
5.

2.5.1.21
T Dark N2
3.

δ
(Vitamin A) (Vitamin K) (Vitamin E) synthase
6.

CH CHCOO
F6 2.6.1.13 Pentose Phosphate Pathway
E
H2NCOOP
STEROIDS 2H+ Cu Heme a3 Carbamoyl-P +
N
(6.3.4.16)
2H+ ATP H 2NCONHCH 2CH2CH2CH(NH3) COO Pyrroline-5-
PORPHYRIAS R β ATP CITRULLINE carboxylate
4.1.3.16
Photosynthesis Dark Reactions CPS Deficiency
2e-
O
2
γ OOCCH(OH)CH 2COCOO
Progesterone 2.1.3.3
3
4.1.1.17
AD

4-Hydroxy-
β

I 1.9.3.1 AαT MIM 237300

H H H β
1.5.99.8
P

HO HO P +1 P i CH2 CH2 Human Metabolism is identified as far possible by black arrows

HO HO
Pi 1.5.1.2 2-oxoglutarate
D ADP +
α
H Biosynthesis Degradation
H+ + 2.1.3.3
H 5.4.99.7 1/ O
Porphobilinogen deaminase Pregnenolone CHOLESTEROL Desmosterol Zymosterol Lanosterol Squalene 2 2 IV H+ H2NCH2CH2CH2CH (NH3) COO
CH2 CHCOO

S 1.14.99.7 (C30) H+
H+
β
F1 ORNITHINE 6.3.4.5
NH
COMPARTMENTATION Ornithine carbamoyl
PROLINE
(2.5.1.61) γ 6.3.4.5 2.6.1.23
HEMOGLOBIN CHLOROPHYLL H+ transferase
Acute Intermittent Porphyria COO-
COO-
H2O 1.14.11.2
+ The "Backbone" of metabolism involves

P
OOCCHCH 2COO OOCCH(OH)CH 2CH(NH 3)COO GLYCOLYSIS in the CYTOPLASM,
CH2 CH2 CH2
COO- COO-
COO-
δ ε F0 H2NCONH 2
4-Hydroxy- (2.1.3.3)
CH2
COO- 2.1.4.1 UREA N the TCA CYCLE (mainly) in the Mitochondrial matrix
O
CH2 +
MIM 176000 CH H
CH3
CH
CH H2 CH3 CH CH2 H2 CH3
CH2 H+ H2NCNHCH 2CH 2CH2CH(NH3) COO
HOCH CH2
glutamate and ATP FORMATION spanning the
CH2 OCT Deficiency
TRA N S L O

-OOC CH2 H
Glycine +
2
Arginino-
C C C CH2 CH2 H2C CHCOO
R
2 H+
H3 C CH CH C H+ 3.5.3.1 3.5.3.6 MITOCHONDRIAL INNER MEMBRANE
NO
H3 C H3 C CH2 H2NCH2C=O H+ N CH2
succinate
CH2 HOCH
H 2C
5-Amino- n it s
NH2 H 1.5.1.12 MIM 300161
P
N N N N N N α An electron flow (an electric current) generated from
c-sucb -u
H H H H N N + HC CHCOO
Uroporphyrinogen 1.14.13.39
COOlevulinate
HYDROXY
HC Fe CH H2 C CH2 H2 C
H H - H2NCNHCH 2CH2CH2CH (NH3) COO NADH and UQH2 drives the translocation of protons
CH2
H
N
3-Hydroxy-
H 2C CH2 AT
ARGININE
H H H H from the matrix to the intermembrane space.
PROLINE
C

H+ H+
N N N N N N H H
decarboxylase -OOC
ED
Y pyrroline-
N N CH 2 The retrolocation of these protons through the F0 subunits
PROTONS Argininosuccinate synthase
H3 C CH3 H3 C CH3 H3 C CH3
H 2C CH2 H+ H+ 4.3.2.1 of ATP synthase to the matrix then supplies the energy
5-carboxylate
C C C CH 2 4.2.1.24
R
H2 C
(4.1.1.37) CH2
H CH2 CH2 H2 CH2 CH2 H2 CH2
-
OOC
C
H2 COO- ADP Pi NH CO
needed to form ATP from ADP and phosphate
(6.3.4.5)
CH2 CH2
I
+ NH + NH2 HN C
ATP
CH2 CH2 + NH2 Electron Flow Proton Flow
Porphyria Cutanea Tarda CH2 CH2 CH2 CH2 CH2 CH2 H2 C N
H X Y
2
N CH 2
Citrullinaemia
COO- COO- COO- COO- COO- COO- H2NCNHCH 2COO H2NCN(CH 3)CH2COO P- HNCN(CH 3)CH2COO 1.5.1.2
MIM 176100 N 1.3.3.4 4.1.1.37
COO- COO-
4.3.1.8
H2 N
Guanidoacetate
2.1.1.2
Creatine 2.7.3.2 P-Creatine
CH3
Creatinine MIM 215700
S HEME Protoporphyrinogen
1.3.3.3
Coproporphyrinogen Uroporphyrinogen Porphobilinogen E ND E
R GONIC REACTI ON 3.5.2.10
4.99.1.1 4.2.1.75

Protoporphyrinogen oxidase Small Numbers ( eg. 2.4.6.7) refer to the IUBMBEnzyme Argininosuccinate lyase
Commission (EC) Reference Numbers of Enzymes
(1.3.3.4) (4.3.2.1)
Variegate Porphyria Argininosuccinate Aciduria
MIM 176200 MIM 207900

© 2006 International Union of Biochemistry and Molecular Biology Designed by Donald E.Nicholson,The University of Leeds,England – and Sigma-Aldrich in collaboration with Mick Henderson,St.James’ Hospital,Leeds – and the UK MetBioNet Training Group www/metbio.net.
www.iubmb.org For further information about metabolic disorders visit the OMIM (Online Mendelian Inheritance in Main) website,ohn hosted
Hopkins
by theUniversity
J – www.ncbi.nlm.gov/entrez/query/fcgi?db=OMIM.

sigma-aldrich.com/pathways
GDS