Inborn Errors of Metabolism

GLYCOGEN STORAGE DISEASES AMINO ACID METABOLISM

CONH 2 COO Fumarylacetoacetase

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

1.
HO O OPPU UDP-
O
MANNOSE + COO
I (1.14.18.1)

4.
(Sialate) 2.7.7.13 4.2.1.46 OH CH2CH(NH 3)COO C-CH(OH)CH(OH)CH 2OP NH C C CH CH2OP 1.2.1.32
Galactose-P

1.
CH2 C COO 2 CH2CH 2NH2 HOC-CH(OH)CH(OH)CH 2OP
S
COO
Galacturonate 1.1.1.2
N

19
CH2OP NHAC CH 1.14.12.1
(3.2.1.33) O COO O HO OH HO O P
2.7.1.7 2.7.7.27
CH 2OH NH
NH
4.2.1.20 N
H N
CH
H
OH OH
O NH2
NH 2 Tyrosine Negative Albinism
UDP-N-Ac- Mannose-1-P O
Tryptamine
4.1.1.28
Indole-3-glycerol-P 1-(o-Carboxy phenylamino)
4.1.1.48
N-(5-P-Ribosyl)
2.4.2.18
Anthranilate
OOC
O
Glucanotransferase ACNH
HO OH
3.1.3.29
4.1.3.20 Glucosamine
5.1.3.7
HO OH OPPU 5.1.3.6 CH 2OP
O
TDP-Glucose
2.7.7.34 2.7.7.9 5.1.3.2 HO
COO
TRYPTOPHAN 1-deoxyribulose-5-P anthranilate
OOC
2-Amino MIM 203100
OH 2.7.7.10
pyruvate 2.7.7.12
2.7.7.12 OH OPPU OC muconate
(2.4.1.25) N-Ac-Mannosamine-6-P
OH
UDP-Glucuronate 5.4.2.8
HO OH HO OH
2.7.7.24 CH 2OH
O OH P OCH 2 CH2
HO COO COO COO
COO COO COO
4.1.3.27
OOC CH 2COCOO
A
GSD Type III Cori Disease CH2OH
O
CH2OH
O 2.5.1.57
CH2OH
O
CH2OP
O
HOCH HCOH
C OH OH HO OH
CH2
O-C-COO
CH2
C Glycine dehydrogenase
H 2.7.1.60 Mannose-6-P 2.4.1.13 CH 2OP HO OH OP UDP-Galactose H OH O OH
4.2.1.10
O
OH OH
PO
OH
OH P O
OH OH OC-COO OH I
MIM 232400 ACNH
HO OH HO OH OPPU HO OH OP O HO 3-Deoxy-D-arabino-
4.2.3.4
Dehydro- Dehydro-
1.1.1.25
Shikimate
2.7.1.71
Shikimate-3-P
2.5.1.19
Shikimate-5 4.2.3.5 Chorismate
5.4.99.5
Prephenate D (1.4.4.2)
E OH HO OH OH 2.4.1.9
heptulosonate-7-P quinate shikimate enolpyruvate 3-P
X
NHAC NHCOCH 3 5.4.2.3 NHCOCH 3
N-Ac-Glucosamine-6-P
Glucose-1-P O O
OH CH2COCOO
PEP
CH2CH(NH3) COO
+
CH2CH(NH3) COO
+
S Non Ketotic Hyperglycinaemia
N-Ac-Mannosamine UDP-N-Ac-Glucosamine N-Ac-Glucosamine-1-P HO OH OH CH2OH CH2COCOO
Glucose-6-phosphatase 4.2.1.51
O CH2COO
2.3.1
O 5.1.3.14 2.7.7.23
H H OH
.4 NH2
-OOC
O
CH2COO
O
CH2COO
1.3.1.13
(NKH)
S
COO OH OH OH OH
5.3.1.8 Glucosamine-6-P COO OH OH OH 1.14.16.1
(3.1.3.9) O
OH HOCH 2 C C C CO CH2OH 5.4.2.2
HO OH OH
Fumaryl 5.2.1.2 Maleyl 1.13.11.5 Homogentisate 1.13.11.27
Hydroxyphenyl 2.6.1.5
TYROSINE PHENYLALANINE
2.6.1.5
Phenylpyruvate MIM 238300
E OH H OH OH OP
OH OH H OH
acetoacetate acetoacetate pyruvate 4.3.1
GSD Type I Von Gierke Disease S HOCH 2 C C C C COO - HO OH OH HO OH HO OH
Fructose SUCROSE 3.2.1.26 3.2.1.48
GLUCOSE
1.3.1.13
+
1.3.1.13
.5

H OH H H OH OH CHOHCH 2NHCH 3 CHOHCH 2NH2 CH2CH2NH2 CH2CH(NH3) COO- 4.1

MIM 232200 Gulonate
1.1.1.19
Glucuronate
OH
1.13.99.1
Inositol
3.1.3.25
Inositol-P 5.5.1.4
.1.2
5
CH2CH2NH2 CH=CHCOO
C
OH H OH OH OH H OH OH OH OH OH 1.14.18.1 Ubiquinone Cinnamate A
OH H OH OH 1.1.1.2
1 3.1.3.9 ATP OH OH OH OH Menaquinone
3.1.1.17 HOCH 2 C
H
C C
H
C
H
CO HOCH 2 C
H
C C
H
CO CO
HOCH 2 C C C C CO 1.1.1.14 H H OH H CH2OP
O
2.7.1.2 Epinephrine 2.1.1.28
Norepinephrine 1.14.17.1
Dopamine 4.1.1.28
Dopa
+
CH2CH(NH3) COO
OH
Tyramine 1.14.13.11 T
O O H O HOCH 2 C C C C CH2OH
2.6.1.16
2.7.1.1 (Adrenaline) (Noradrenaline) E
PURINE & PYRIMIDINE
CHOHCH 2NH2 O
Gulonolactone 1.1.3.8 2-Oxogulonolactone ASCORBATE OH OH H OH ADP 6
HN
OH H OH 1.10.2.1
Sorbitol
2.7 HO OH
O
CH2 OP
3.7.1.2
2.1.
1. 1.14.18.1 H2
C
I I CH=CHCOO
Coumarate
C
OH H OH H .1. α-Tocopherol O
1.1.1.45
HOCH 2 C C CO C COO- HOCH 2 C C CO CO COO - HOCH2 C C CO CO
1.10.3.3
CO
4
P-Glucono
OH
1.1.1.49
Glucose-6-P
O
CH(OH)COO OH
OCH 3
CHOHCH 2OH (Vitamin E) +
CH-COO
O
O O
H METABOLISM
H OH H 1.1.1.130 H OH H O 2.7.1.3
7
Normetepinephrine O NH3 OH
O
P 3-Dehydrogulonate 2, 3-Dioxogulonate Dehydroascorbate H H OH H 3.1
.1.1 lactone HO OH OH
OH
OCH 3
. 3.4
(Normetadrenaline) OCH 3 Dopaquinone
O NH
I
OH
I
L
E C COO - NADP + OH 1.4 OH
MONO- & DI-SACCHARIDES OH H OH H H OH H H POCH2 C C C
5.3.1.9 4-OH-3-Methoxy- 4-OH-3-Methoxy- Plastoquinone MELANIN THYROXINE LIGNIN Tannins Plant Pigments A Xanthine oxidase
N 5.3.1.8
6-P-Gluconate NADPH
OH OH H
OH
HOCH 2 C C C CHO HOCH 2 C C C CHO HOCH 2 C C CO CH 2OH D-mandelate phenylglycol M
T H OH H OH OH H OH OH
H H OH
(1.17.3.2)
O L-Xylose 4.1.1.34 D-Arabinose 5.3.1.3 D-Ribulose 2.7.1.47 HOCH 2 C C C CO CH2OP NADP + CH2OP
OOC-CH-CH 2COO I Xanthinuria
Sucrase-isomaltase H H HO O NHCOCH 2NH2 O
NH NH N

S OH H H OH H OH H
OH OH H
Fructose-1-P
1.1.1.44
2.2.1.1 POCH2 C C C CO CH2OH H 2C CHO H 2C CHO
HC
N
CH
OOC
C
CH
HNCO C N
CH H 2N
C
C
N
CH
N
(3.2.1.10) HOCH 2 C C C CH2OH HOCH 2 C C CO CH 2OH POCH2 C C CO CH2OH OC HN C H 2N C C H 2N C
C N E MIM 278300
E H H H NADPH
Fructose-6-P
OH OH H
OH OH
NH
RP
NH
RP
N
RP H2 N N
RP
N
RP H 2N RP

Sucrose-Isomaltose Malabsorption S
H OH OH H OH
2.7.1.53
H OH
HOCH 2 C C C CH2OH
5.1.3.1
Glycinamide- 2.1.2.2 Formyl 6.3.5.3 Formyl 6.3.3.1 5-Amino 4.1.1.21 5-Amino-4-imidazole 5-Amino-4-imidazole 4.3.2.2 5-Aminoimidazole O
6.3.2.6 S
L-Arabitol L-Xylulose L-Xylulose-5-P H H
ribosyl-P glycinamide-R P glycinamidine-R P imidazole-R P carboxylate-R P (N-succinylcarboxamide)-R P carboxamide-R P C C N
OH OH H H OH H H OH H OH OH OH
Ribitol
POCH2 C C CO CH2OH ATP H2 N
CH
Hypoxanthine guanine
MIM 609845 C C C CHO HOCH 2 C C C HOCH 2 C C C CHO OH OH H H O 2.4.2.8 2.1.2.3
HCO C
N RP
phospho-ribosyl transferase
HOCH 2 CH 2OH 2.7.1.11 NH2 H2N OC NH NH O O NH
H2NCONH 2 C N
H H OH OH H OH D-Ribulose-5-P POCH 2 C C CHO 3.1.3.11 H 2N COO
CO HN C C C N
Formylamido-
1.1.1.10 OH H OH
2.7.1.47 ADP 6.3.4.13 Urea OC C
CO
OC C OC C
CO HN C CH HN C CH 3.2.2.2
Inosine 3.1.3
.5 imidazole-
L-Arabinose 5.3 Xylitol D-Xylose H H H OH OH
N H NH N H NH N NH OC C HC C
(2.4.2.8)
Lactase OH H H
.1.
4 OH OH OH OH HOCH 2 C C C CHO 5.1.3.1
Erythrose-4-P
H H HO
3.5.3.4 H
Allantoate
3.5.2.5
H
Allantoin
1.7.3.3
H
URATE
1.17.3.2 NH NH

Xanthine
1.1.3.22
N NH
Hypoxanthine
2.4.2.1 carboxamide-R P
(3.2.1.23) (3.2.1.108) HOCH 2 C C C CHO HOCH 2 C C CO CH2OH POCH2 C C CO CH OH OH OH OH
POCH 2 C C C CO CH2OP
+
CH2(NH3)COOH NH2
3.5.4.10 O
C N HGPRT Deficiency, Primary Gout,
2
D-Ribose .1.
4 NH2 N
N
3.5.4.4 HN C
H OH OH H H
L-Ribulose 2.7.1.16 L-Ribulose-5-P
H H
5.3.1.6
H OH OH OH H
2.6 .10 GLYCINE N
N
CH O O O HC
CH NH
C
2 N
CH
OOC-CH-CH 2COO
HC C P Lesch-Nyhan Syndrome
Lactose Intolerance L-Lyxose 5.1.3.4
POCH 2 C C CO CH 2OH
4.1.2.- Fructose- CH2OP
1.4
.1 .2
0 O HC
N N -O P~O P~O P O CH
N N N C CH NH Adenosine N N RP
U
1.1.1
H OH 2.7 OH H 2.2.1.2 O NH2
2.
.1
1 O P O CH2 O
2 O HC C
Fumarate
C N
Aspartate INOSINE-P MIM 308000
MIM 223000 .9 HOCH 2 C C CO CH2OH
. 1.1
5 D-Xylulose-5-P 1:6-bis-P OOCCH 2NHCH3
O O O N N RP(P) N
HC
C
C
CH (IMP) R
Sarcosine 2.7.4.3
OH H
D-Xylulose
2.7.1.17 OH OH
Glyoxylate
O
OH
4.6.1.1 ATP
OH OH
2.7.4.6
ADP
2.7.4.4 4.3.2.2
N
Adenylo-
NH RP
6.3.4.4 O I
Adenosine deaminase
N
ADENOSINE-P C

Galactokinase
P-Ribosyl 1.5.99.2 Cyclic AMP (AMP) succinate 3.1.22.1
HN C CH N
amine 1.17.4.1 1.1.1.205 OC C
H+ PHOTO- H+
H+
H H H
H H H OH
OOCCH 2N(CH3)2
1.4.4.2
2H-folate d-ADP 2.4.2.1
N
H
N RP E (3.5.4.4)
(2.7.1.6) H+
2H+ yclic Ph
otophosphoryla SYSTEM lic
n-cyc electr
POCH 2 C C C CHO
POCH2 C C C C CO CH2OP 4.1.2.13 Dimethylglycine XANTHOSINE-P S
PHOTO-
C
tion l
No (electric cur on flo
OH OH OH
OH OH OH H 1.5.1.3 2.7.4.6
.7 DNA 2.7.7.7
d-GTP 2.4.2.15
d-GDP
3.5.4
.3 (XMP) Severe Combined
Galactose Kinase Deficiency SYSTEM
2H+ H+
Ferredoxin
ren
t) D-Ribose-5-P Sedoheptulose-PP 2.1.1.5 2.7.7 2.7.7.7
Guanine
O
N
II
H+ 4H-folate 1.1 6.3.4.1 C
Immuno-Deficiency (SCID)
w

7.4
MIM 230200 P *- 2.2.1.1 OOCCH2N(CH3)3
+
d-ATP 2.7 d-CTP .1 2.4.2
.1 6.3.5.2
HN C CH

H 2e- PQ 2e-
2e H+ .7.7 H2 N C C
MIM 102700
PQ
_
. POCH 2CHOHCHO
Betaine FOLIC ATP 2.7.7.6
RNA 2.7.7.6
GTP 2.7.4.6
GDP 2.7.4.8
N N RP

O QB
PQH2 1e- 1e-
PQ
H+ 3-P-Glyceraldehyde 1.2.1.8 ACID 2.7
TTP 2.7.
GUANOSINE-P
T Fe-S NADP+ HOCH2COCH2OP .7.6 1.17.4
Galactose-1-phosphate PQH2 Cyt bf
Dihydroxy-
2.2.1.1
5.3.1
.1 OHCCH 2N(CH3)3
+ 1.4.4.2 C1 4.6 .1 (GMP)
O QA 2e- A1 H+
acetone-P Pi
2.4.2.14
Betaine POOL NH2
P
uridyl transferase S Pheophytin Cyt bc Chl.A0
H+
.1 Pi 6.3.4.7
aldehyde 4.2.1.2
0 O O 2.7 TDP
O
C
O
N
C
CH
Y
NADPH+H+ (Glycerone-P) 4.1.2.5 C .
5.3.1 7.6 C
NAD+ C 2.7 C-CH3
. .4.9 HN
_ 2e- HN CH-CH3 CH
Y CH3 HN C CH3 HN OC CH
(2.7.7.12) P680
Chl.a 2PQH2
2PQ 2PQ
P700 Pi ADP
2.7.1.28 1.1.99.1
CH3
H2NCONHCH 2CHCOO
OC CH 2
OC CH
OC
N
CH 2.1.1.45 OC CH N
DP R
N 2e-
2e- PC
H+
+
HOCH2CH2N (CH3) 3
H2NCH 2 CHCOO
3-Amino- β-Ureido
NH
Dihydro
NH
Thymine
2.4.2.4
DP N DP
d-UMP
3.5.4.12
d-CMP
2.7.4.14
d-CDP I
Classical Galactosaemia T Mn Fe-S 2e- Cyt.f H+
H+
Glyceraldehyde 1.2.1.12 CHOLINE 3.5.1.6 3.5.2.2 1.3.1.2 THYMIDINE-P
FOLIC ACID
PC PC
Ribulose-1,5-bis-P isobutyrate isobutyrate thymine O
M
α
α

+ O
α

1.2.1.13 2.4.2 NH 2
H Pi
1

MIM 606999 4H+ HOCH2CH(NH3)COO 2. C C C

NADH 4.2.1.22 1. .4
a

HN CH2 HN CH
H+ H+ H+ ADP 1. CH
I
8
N
β

E H 2O Translocated protons SERINE 1.17.4.1

8
H+ 13
2

CO2
β

OC CH2 OC CH CH
OC
1

H+ H+ 2.6.1.51 H2NCONHCH 2CH 2COO

S H+
H+ H+ H+ H+ H+ H+ CH2OP 4.1.1.11 H2NCH 2CH2COO
Carbamoyl Dihydro-
NH N H NH
CDP D Dihydrofolate reductase
3
3

3.5.1.6 3.5.2.2 1.3.1.2 3.5.4.1

H+
H+ H+
γ ATP Fixation
O
POCH 2CHOHCOO P 1.4.1.7
β-Alanine Uracil Cytosine
I O2 Protons from Water H+ H+
1:3-bis-P-Glycerate β-alanine uracil NH 2
I
H+

εε

2.7.6.1
2

H+ H+ + O
c

+
2

H+ H β2 HOCH2COCOO C
H H+ H+ H+ H+ OP O P -OOC O O O
CH 2.7.4.6 (1.5.1.3)
α
α

3.1.3.3 O C
S H+ H+
Hydroxy- NH2 CH2 C C HN
C
CH CH
C HN CH N
N
ATP
CH2
3

THYLAKOID LUMEN CH HN
OH OH CH
ATP
α

H+
HN HN 2.4.2.9 OC
THYLAKOID MEMBRANE P-Ribosyl-PP pyruvate OC
N
CH-COO
OC CH-COO OC C-COO OC C-COO OC N CH
OC
N
CH N
E Megaloblastic Anaemia
+ N RPPP RPPP
H NH
ADP ADP P OCH2CH(NH3)COO NH RP RP 6.3.4.2
S
STROMA 3.6.3.14 Phospho- Carbamoyl Dihydro Orotate Orotidine-P Uridine-P UDP URIDINE- CYTIDINE- MIM 126060
3.5.2.3 4.1.1.23 (UMP) 2.7.4.4
CHLOROPLAST OUTER MEMBRANE 2.7.2.3 serine aspartate orotate 1.3.1.14 2.4.2.10 2.7.4.6 triphosphate triphosphate
1.1.1.29 (UTP) (CTP)
PEROXISOMAL DEFECTS 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
C C NH C
γ-Linolenate
1.14.19.3 P OCH2 C C C C N P OCH 2 C C C C NH P OCH 2 C C CO CH2
Linoleate Arachidonate 1.13.11.34 Leukotriene B4 OH
POCH2CHOH COO
1.1.1.95
P OCH2COCOO CH CH CH
P OCH 2 C C C CH
COO 5.3 O
3-P-Glycerate P-Hydroxy- OH OH HC
N
C
N OH OH HC
N
C
N OH OH HC
N
C
N
Alanine-glyoxylate 1.3.1.35 1.1
4.9
.99
.3
COO COO pyruvate
P-Ribosyl-ATP
O
3.6.1.31
RP(PP)
P-Ribosyl-AMP
3.5.4.19
O
P-Ribosylformimino P-Ribulosylformimino
RP RP
Imidazole
OH OH HN
C
H
N

9.1 2.4.2.17
aminotransferase L
COSCoA CO-S-ACP
HO OH 5.3.99.5
HO O
OH 2.7.1.31 5-aminoimidazole- 5.3.1.16 5-aminoimidazole- glycerol-P ORGANIC ACIDURIAS
I Oleoyl-CoA Palmitoleoyl-ACP Prostaglandin PGE 2 Thromboxane B2 POCH2CH(O P) COO
HC C CH 2CHCOO
+ carboxamide-R P carboxamide-R P+
(2.6.1.44) 1.14.19.1 2, 3-Diphospho- 5.4.2.1 HOCH2CH(OH) COO N NH NHCOCH 2CH2NH2 HC C CH2CH(NH 3)COO HC C
+
CH2CH(NH 3)CHO
+
HC C CH 2CH(NH 3)CH2OH HC C CH2CH(NH 3)CH2OP
HC C CH2COCH 2OP
P COSCoA CH3(CH2)14CH=CHCOS-CoA COS
CH3(CH2)14CH(OH)CH 2COS-CoA CH3(CH2)14COCH 2COS-CoA
glycerate Glycerate C
H Carnosine N NH
N N NH N NH
N NH
4.2.1.19
Hyperoxaluria Type 1 I Stearoyl-CoA Dehydrostearoyl-CoA OH-Stearoyl-CoA
CH3(CH2)14COCH 2COS-CoA
Oxostearoyl-CoA CH 3COO
CH

Histidinal
CH
NH
CH
Histidinol Histidinol-P
CH
C
H
Imidazole
Propionyl-CoA carboxylase
MIM 259900 D ACETATE HISTIDINE
CH3(CH2)14COS-ACP CH 3(CH2)14COSCoA
Endoplasmic Reticulum
HOCH2CH(O P)COO
4.1.1.22
4.3.1.3
1.1.1.23 1.1.1.23 3.1.3.15 2.6.1.9
acetol-P (6.4.1.3)
Chain elongation Mitochondrial HC C CH2CH2NH2

B
Palmitoyl-ACP Palmitoyl-CoA 2-P-Glycerate N NH
OOC CHCH 2CH2COO OC CHCH 2CH2COO CH C CH CHCOO Propionic Acidaemia
CH3(CH2)n CH=CHCOS-CoA CH 3(CH2)n CH(OH)CH 2COSACP CH 3(CH2)n COCH 2COSACP
1.2.1.4 C HN NH N NH N NH 4.3.1.3
I ACYL-ACP 1.3.1.9
2, 3-Enoyl-ACP 4.2.1.60
3-OH-Acyl-ACP 1.1.1.100
3-Oxoacyl-ACP
H HISTAMINE CH
Formimino
3.5.2.7 CH
Imidazolone
4.2.1.49 CH
Urocanate
MIM 606054
4.2.1.61 CH3CH 2OH
O 1.3.1.10 2.3.1.41
4.2.1.11 ETHANOL 2.3
glutamate propionate
2.1.3.2
S CH3(CH2)5CH=CHCH 2COSACP
4.2.1.6
.1.3
0 Methylmalonyl-CoA mutase
CH3(CH2)6CH2CH 2COSACP 3, 4-Decenoyl-ACP 0 CH3(CH2)6CH(OH)CH 2COSACP CH 3(CH2)6COCH 2COSACP +
Y Decanoyl-ACP 1.3.1 3-OH-Decanoyl-ACP
1.1.1.100
3-Oxo-Decanoyl-ACP Glycine 1.1.1.1
CH2CO-OCH2CH(NH 3)COO
Acetylserine HS HSO - Phosphoadenylyl- Adenylylsulphate 2-
SO 4
N
.9 CH3(CH2)6CH=CHCOSACP
2, 3-Decenoyl-ACP 4 .2.1.6
0 2.3.1.41 CH2=C(OP ) COO
1.8.99.1 1.8.99.2
sulphate 2.7.1.25 (APS) 2.7.7.4 (5.4.99.2)
CH3CHO +
(PAPS)
LIPID METABOLISM T CH 3(CH2)2CH 2CH2COSACP CH3(CH2)2CH=CHCO-S-ACP CH3(CH2)2CH(OH)CH 2COSACP
1.1.1.100
CH3(CH2)2COCH 2COSACP P-enolpyruvate Acetaldehyde
S-CH 2CH(NH 3)COO
+
2.5
.1. +
47 HSCH CH(NH
+
CH2CH(NH 3)COO + Methylmalonic Acidaemia
H Hexanoyl-ACP
1.3.1.9
2, 3-Hexenoyl-ACP
4.2.1.59
3-OH-Hexanoyl-ACP 3-Oxo-Hexanoyl-ACP S-CH 2CH(NH 3)COO 2 3)COO + 4.2.1.22 + CH 3 SCH CH CH(NH )COO
2 2 3

2.3.1.41 2.6.1.44 HS
4.4.1.1 SCH 2CH2CH(NH 3)COO 4.2.1.22 HSCH 2CH2CH(NH 3)COO
2.1.1.13 1.2.1.32 MIM 251000
E CH3CH=CHCO.S-ACP CYSTINE 1.8.1.6 CYSTEINE
2.5.1.48
Cystathionine 4.4.1.8
Homocysteine 2.1.1.14
METHIONINE
Hydroxymethylglutaryl CoA lyase S CH3CH2CH2COSACP CH3CH=CHCO-S-ACP CH3CH(OH)CH 2COS-ACP CH3COCH 2COSACP ADP
4.1
.1.
1
1.13.11.20 Adenosyl
(4.1.3.4) I Butanoyl-ACP
1.3.1.9
Crotonoyl-ACP
4.2.1.58
3-OH-Butanoyl-ACP
CH2OH CH2OH
1.1.1.100
Acetoacetyl-ACP HOOCCH 2CO-S-ACP
Malonyl-ACP 2.7.1.40
4.4.1.15
Glutamate
3.3.1.1 Adenosyl
+
SCH 2CH2CH(NH 3)COO
+
CH 3 SCH CH CH(NH )COO
2.5.1.6
Isovaleryl-CoA dehydrogenase
S + 2 2
+ + 3

Ketone Synthesis Defect

R-CH2COO
HOCH HOCH
1.1.1.8 2.3.1.41
ATP
HO 2SCH 2CH(NH 3)COO
Cysteine
HO3SCH 2CH(NH 3)COO
S-Adenosyl S-Adenosyl (1.3.99.10)
CH3(CH2)n+2COS-CoA
6.2.1.3 FATTY ACID CH2OH CH2O P
.1.
2 4.4.1.15 HSO3- Cysteate homocysteine
2.1.1.10
methionine
MIM 246450 ACYL-CoA
3.1.2.20
Glycerol
2.7.1.30
3-P-Glycerol
2.3.1.39
3.7 HO2SCH 2COCOO
sulphinate 4.1
.1.
29
6.3.2
.2 +
CH2SH
2.1.1.20
(SAM) Isovaleric Acidaemia
(Cytosol) KETONE BODIES 3-Sulphinyl OOCCH(NH 3)CH2CH2CONHCHCOO
2.3.1.15 2.3.1.51 CH3COCH 3 CH3CH(OH)CH 2COO
PYRUVATE 1.4.1.1 + pyruvate HO2SCH 2CH2NH2 HO3SCH 2CH2NH2 γ-Glutamylcysteine MIM 243500
HOOCCH 2CO-SCoA 1.8.1.3
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 Hypotaurine Taurine Glycine
Medium chain acyl Carnitine 3.1.1.3
R’-CO-OCH
CH2O-CO-R CH2O-CO-R
2.7.8.5 2.3.1.12 ALANINE 4.1.2.5
4.1.1.29
+ 6.3.2
.3
+
CH2SH

L O-Acyl-carnitine
R’-CO-OCH R’-CO-OCH 4.1.1.4 1.1.1.30 1.8.1.4 2.2.1 OOCCH2CH2COOCH2CH2CH(NH 3)COO OOCCH(NH 3)CH2CH2CONHCHCONHCH 2COO

CoA dehydrogenase I Triacylglycerol

CH2O-CO-R"
CH2OH CH2O P CH3COCH 2COO
CH 3CO-S-ACP
Acetyl-ACP
4.1.1.9 .6
4.1.1.12
+
Succinylhomoserine
Bile Acids
Glutathione
Diacyl Phosphatidate Acetoacetate 1.1
.1 CH3CH(OH)CH(NH 3)COO + +
(1.3.99.3) P O-Acyl-carnitine FAT 2.3.1.20 glycerol 3.1.3.4 2.7.1.107 3.1.2.11 2.3.1.38
.27 2.6.1.18 POCH 2CH2CH(NH 3)COO
O-Phospho- 2.7.1.39Homoserine
HOCH 2CH2CH(NH 3)COO
CH3COCOO- THREONINE HOCH 2 C(CH 3)2COCOO

MCAD Deficiency I 3.1.1.28 CH3CH(OH)COO

4.2.3.1
homoserine
2.3.1.46 HCHO
4.1.2.12
Oxopantoate
D
CH3(CH2)n CH2CH2COSCoA PYRUVATE LACTATE OHCCH 2COO-
4.1.3
.18 CH3 CH3
+ AMINO ACID METABOLISM
MIM 607008 ACYL-CoA CH3(CH2)n CH=CHCOSCoA CH3(CH n CH(OH)CH 2COSCoA CH3(CH2)n COCH 2COSCoA 4.
2. Malonic
COO
1.1.1.3
C (OH)CH(OH)COO
CH3
CHCOCOO
CHCH(NH 3)COO 1.1.1.169
(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 1. 4.3.1.19 CH3
D CH3(CH2)2COCH 2COSCoA
.16
ATP 1.2.4.1
GDP
52 semi- CH3COC(OH)CH 3
2-Acetolactate
1.1.1.86
CH3
2-3-Dihydroxy 4.2.1.9 2-Oxo- 1.4.1.8 VALINE
CH3 2.6.1.32
HOCH 2 C(CH 3)2CH(OH)COO

E
CH3(CH2)2CH2CH2COSCoA
1.3.99.3
CH3(CH2)2CH=CHCOSCoA
4.2.1.17
CH3(CH2)2CH(OH)CH 2COSCoA 1.1.1.35
2.3.1.1
2.3.1.12
1.2.1.18 aldehyde Pantoate Cystathionine synthetase
Hexanoyl-CoA 2, 3-Hexenoyl-CoA 3-OH-Hexanoyl-CoA 3-Oxohexanoyl-CoA 6 CO2 3.1.3.43
CO2
CH3CH2COCOO isovalerate isovalerate β-Alanine
G 4.1.1.32
Oxobutyrate 1.2.4.4 3.5.1.22
CH3CH2CH2COSCoA CH3CH=CHCOSCoA CH3CH(OH)CH 2COSCoA CH3COCH 2COSCoA 2.3.1.9
6.4.1.1
CH3 CH CH CH 6.3.2.1 (4.2.1.22)
R
3 3 3
1.3.99.2 4.2.1.55 1.1.1.157
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 Odd C Fatty acids CH3COSCoA
GTP 4.1
.3.1 3-Hydroxy-
3.1.2.4
3-Hydroxy- 4.2.1.17 Methyl 1.3.99.3 Isobutyryl-CoA PANTOTHENATE Homocystinuria
CH3 8
D
CH 3CH2CH 2CH2COSCoA CH3CH2CH=CHCOSCoA CH3CH2CH(OH)CH 2COSCoA
1.1.1.35
CH3CH2COCH 2COSCoA
ACETYL-CoA .31 isobutyrate Isobutyryl-CoA acrylyl-CoA MIM 236200
Pentanoyl-CoA Pentenoyl-CoA 3-OH-Pentanoyl-CoA 3-Oxopentanoyl-CoA 2.3.3.10 NAD+ OHCCHCOO 1.1.1 2.7.1.33
A Methylmalonyl CH 3
+
2.6.1.44 semialdehyde CH3 CH3
P OCH 2C(CH 3)2CH(OH)CONHCH 2CH2COO
2.6.1.4
SPHINGOLIPIDOSES T COO C(OH)CH(OH)COO CHCOCOO
CHCH(NH 3)COO
4-P-Pantothenate
I 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
CH3CH2
Cysteine Branched chain ketoacid
OH OH 2.7.7.41 Glyoxylate 4.1.3.4 2-Aceto-2- 4.2.1.9
2-Oxo-3-methyl 6.3.2.5
O R'-CO-OCH O R'-CO-OCH COO
O
+
R'-CO-OCH O
CH2COO
-OOCCOCH COO-
2
OXALOACETATE
2.3.1
.16
2:3-Di-OH-
hydroxy- 1.1.1.86 3-methylvalerate valerate
ISOLEUCINE COO decarboxylase
NADH+H+
2.6.1.1
Acid-β-glucosidase
CH 2O PO CH 2CHNH 3 1.1.1.79
N CH2O-PO 1.3.99.7
- Serine
CH2O POCMP
1.2.3.5
CH3C(OH)CH 2COSCoA
butyrate
P OCH 2C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCHCH 2SH
4-P-Pantothenylcysteine (1.2.4.4)
O - HO OH O
2.7.8.8
O
β-OH-β-Methyl- 2.3.3.1
CH2COO- CH 3
CDP-diacyl 4.2.1.1 NAD+ CH3 CH 3 CH3 1.2.4.4
(3.2.1.45) OH PHOSPHATIDYL
2.7.8.11 Inositol glycerol
HOCH 2COO
Glycolate glutaryl-CoA 8 2.3.3.8 C(OH)COO-
CH2COO-
CH3COCHCOSCoA CH3CH(OH)CHCOSCoA CH3CH=CHCOSCoA CH3CH 2CHCOSCoA 4.1.1.36 Maple Syrup Urine Disease
Phosphatidyl SERINE 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
1.1.1.34
CITRATE acetyl-CoA hydroxy- 1.3.99.3
CoA P OCH 2C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCH 2CH 2SH MIM 248600
CH2O-CO-R CH 2O-CO-R’ Oxalate FMN I 2.3.3.9
MIM 230800 R'-CO-OCH O O HCO-CO-R R'-CO-OCH O 2.7.8.5 HOCH 2CHO
I -OOCCHO 4.2.1.3
CH 3CH2COSCoA
butyryl-CoA 4-P-Pantetheine
P CH 2O-CO-R
4.1.1.65 CH2 O-POCH 2CH(OH)CH 2 O-P-OCH 2
-
CH2O-PO CH 2CHOHCH 2OH Glycol Glyoxylate CH(OH)COO- Propanoyl-CoA 2.7.7.3
- O- aldehyde CH2COO Cycle CHCOO-
1.6.5.3

H
O O 1.1.1.37 +
R'-CO-OCH O - 2.1.3.1 COOH COOH
Cardiolipin Phosphatidylglycerol CH3C(OH)CH 2CHO
FMNH2 2COO (CH3)2CHCH 2 CH(NH 3)COO
Hexosaminidase A
+ 4.1.1.41
O CH 2O P OCH 2CH2 NH 3
O-
+ +
1.4.3.8 Mevaldate ISOCITRATE 5.1.99.1
6.4.1.3 (CH3)2CHC(OH)CH 2COO (CH3)2CHCHCH(OH)COO (CH3)2CHCH 2COCOO 2.6.1.6
LEUCINE
ADP- OCH2 C(CH 3)2CH(OH)CONHCH 2CH2CO NHCH 2CH2SH
Dephospho-Coenzyme A
CPP- OCH 2CH2 NH3 POCH2CH2 NH3 + 2-Isopropyl- 3-Isopropyl- 1.1.1.85 Oxoleucine
(3.2.1.52) S 2.7.8.1 CDP-Ethanolamine 2.7.7.14
Ethanolamine-P 2.7.1.82
+
HOCH 2CH 2NH 3 2H 4.1.3.1 1.1.1.41 CH3 malate 4.2.1.33
malate 1.4.1.9
Phosphatidyl Ethanolamine 1.1.1.32
2Fe -S 2.7.1.24
P ethanolamine
CH2OH
CH3CH(OH)CH2CO.SCoA
OOC-CH-COSCoA 1.2.4.4
MALATE GABA METABOLISM
CH3
Tay Sachs Disease CH2O-CO-R (5 Clusters) 4.2.1.18 CH3
H CEPHALIN
HOCH O CH3COCH 2CH2N(CH 3)3 -OOCCOCH CH COO- Methylmalonyl-CoA OOCCH 2C = CHCOSCoA CH3C = CHCOSCoA (CH3)2CHCH 2COSCoA P-ADP- OCH 2 C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCH 2CH2SH
HOCH O +
Acetylcholine CH C(OH)CH
CH COO
4H+ 4H+
2 2 4.1.1.71 6.4.1.4 A
3-Methyl- 3-Methyl- Isovaleryl-CoA NEUROTRANSMITTER DEFECTS
CH2OPO CH2CH 2N(CH 3) 2
MIM 272800 O +
- 2-OXO- ASPARTATE 4.2.1.18 Coenzyme A
L CH2OCH=CHR
CH2OPO CH2CH2N(CH 3)3
2.1.1.17
2.1.1.71 O - Lysolecithin 3.1.1.5
O
Glycerophosphocholine 3.1
.4.2
3
Mevalonate
2 CH2OH 1.6. 5.3
2H+ 4.2.1.2 GLUTARATE
2.7.2
.4
1.1.1.3
glutaconyl-CoA crotonyl-CoA 1.3.99.10 M
I R-CO-OCH O
CH 2 O-CO-R
3.1.1.32
3.1.4.4 2.3.1.6 or 1.2.4.2
2.3.1.61
I
2.7.1.36
2H+ -
R'-CO-OCH O +
Sphingomyelinase P
+
CH2OPO CH2CH2N(CH 3)3 +
CH2OPOCH2CH2N(CH 3)3 +
3.1.4.3
+ +
2.7.4.2 OOCCH=CHCOO- 4.3.1.1
P OOCCH 2CH(NH3)COO + N Succinic semialdehyde
-O O - CPP-O CH2CH2N(CH 3)3 OCH 2CH2N(CH 3)3 HOCH 2CH2N(CH 3)3 FUMARATE Aspartyl-P 1.2
H
C
H2
C
OOCCH 2CH2CONH NH3
O
(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
CH-COO
H 2C CH2 OOCCH 2CH2CONH OOCCHCH 2CH2CH 2CH-COO
+
OOCCH-CH 2CH2CH2CHCOO
+ dehydrogenase
plasmalogen 1.3.1.35 2.7.8.2 2.7.1.32 OOCC OOCC CH-COO
D 2.7 .8.3
3.1.4.12 CH3C(OH)CH 2CH2OPP FADH2 -OOCCH2CH2CO.SCoA OHCCH 2CH (NH3)COO N N OOCCOCH 2CH2CH2CH-COO NH3 NH 3
Niemann-Pick Disease Serine +NH + + + Diphospho-
+
SUCCINYL-CoA 5.4.99.2 Aspartyl 4.2.1.52 2, 3-Dihydro-1.3.1.26 Piperideine-
OOCCH 2CH2CHO N-Succinyl- 2.6.1.17 N-Succinyl-2, 6 3.5.1.18 Diamino- A (1.2.1.24)
S 2.3.1.50 3 NH 3 NH 3 NH 3
mevalonate
Fe-S 1.3.5.1
Succinic Semialdehyde dipicolinate 2, 6-dicarboxylate 2-amino-6-oxo- diaminopimelate pimelate C
MIM 257200 CH 3(CH2)14COCHCH 2OH CH3(CH2)14CH(OH)CHCH 2OH CH3(CH2)12CH=CHCH(OH)CHCH 2OH CH3(CH2)12CH=CHCH(OH)CHCH 2O- Galactose 6.2.1.4
semialdehyde pimelate 4-Hydroxybutyric Aciduria
Dehydrosphingosine Sphingosine 4-Sphingenin Psychosine Cyt.b FAD
-OOCCH2CH2COO-
SUCCINATE
1.2.1.16 OH + .7
5.1.1 0
I
1.1.1.102
UQ Glycine
1.2.1.24 + + + + + H2N(CH 2)4 CH(NH 3)COO
D MIM 271980
UDP-Sugars Acyl-CoA
(CH3)3NCH2CH(OH)CH 2COO (CH3)3N(CH 2)3 CH2CH(NH 3)COO (CH3)3N(CH 2)3 CH2CH(NH 3)COO .2
2.4.1.23 II 4.1.1
Gangliosides 2.4.1.62 3.5.1.23 Acyl-CoA 4.1.1.33 2.3.1.37 + Carnitine N6-Trimethyl- N6-Trimethyllysine LYSINE 1.5.1.7 - 10
UDP-Galactose UQH2 2H+
H2NOCCH 2CH (NH3 COO
2.6.1.19 1.14.11.1
3-OH-lysine
1.14.11.8 S
NHAcyl O 3.2.1.52 NHCOR Asparagine
O
+
CH3(CH2)12CH=CHCH(OH)CHCH 2O PO CH2CH2N(CH 3)3
- CH3(CH2)12CH=CHCH(OH)CHCH 2OH
NHCOR
CH3(CH2)12CH=CHCH(OH)CHCH 2O- Galactose CH2 5-Amino- + +
COO
NH CHCH 2CH2COO
+
4-Aminobutyrate
levulinate
SPHINGOMYELIN 3.1.4.12 Ceramide 3.2.1.46
3.2.1.45 Cerebroside CH3C-CH2CH2OPP
2UQH2 UQH2 1.3.99.7 OOCCH 2CH 2CH2COSCoA
Glutaryl-CoA
OOCCH 2CH2CH2COCOO
2-Oxoadipate
OOCCH 2CH2CH2CH (NH3) COO
2-Aminoadipate 1.2.1.31 2-Aminoadipate
OHCCH 2CH2CH2CH (NH3) COO CH 2CH2CH2CH2CH (NH3) COO
Saccharopine
aminotransferase
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 (2.6.1.19)
I CH3C = CHCH 2OPP
2e- 2UQ_ 2H+ 2-AMINO ACID 4-Aminobutyrate Adenosyl
RESPIRATORY CHAIN DEFECTS Lycopene (C40) Phytoene Dimethylallyl-PP . III _ (GABA) CH3-SCH 2CH2CHNH 2 GABA Transferase Deficiency
S (C40) (C5)
1e- R-CO-COO
2-OXO ACID
H2N(CH 2)3NH(CH2)4NH (CH2)3NH2
Spermine
+
S-Adenosylmethyl
2e- UQ.
TRA

To Brain - VISION 2.5.1.1

O Fe-S +
1.
1 .1
5
thiopropylamine LEGEND MIM 137150
hv CH 3 CH3
1e- 2.6.1.- OOCCH 2CH 2CH (NH3) COO
4.
P
NS

β-CAROTENE (C40) 2.5.1.32 2.5.1.29

Cyt.bL (Decarboxylated SAM)
Cytochrome c oxidase CH3C= CHCH 2 CH2C= CHCH 2OPP Cyt.bH MI
GLUTAMATE
A

NA
R Metarhodopsin Rhodopsin O
CH2OPP Geranyl-PP TIO N 2.7.2 +
.11 POOCCH CH CH(NH
2.5.1.22 Carbohydrates Amino Acids
(1.9.3.1) E 1.14.99.36 CH3O CH3
Geranyl-geranyl-PP (C10) Cyt.c1 2 2 3 ) COO H2N(CH 2)4NH (CH2)3NH2
Biosynthesis Biosynthesis
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 CHO (Coenzyme Q) OPP Cyt.c 1.4.1.2 1.4.1.14 3.5.1.2
6.3.1.2
Lipids Purines &
MIM 220110 I
1.2.1.36
trans-Retinal 5.2.1.3
11-cis-Retinal Menaquinone CH2OH CH2 1.2.1.41 2.5.1.16 Biosynthesis Pyrimidines
Light
CHO
Phytol (C20) or ting ATP NO3- NH4 + + Degradation Biosynthesis UREA CYCLE DEFECTS
D Retinol esters 1.1.1.105 1.1.1.105 Plastoquinone CuA CuA nsp 3.6.1.34 synt H2NOCCH 2CH2CH (NH3) COO + H2NCH2CH2CH2CH2NH2

S CH3
Farnesyl-PP
+-
tra
oscp
h 1.7.1.1
1.7.99.4 .7.
1.7 .1.4
1
ATP
Glutamine OHCCH 2CH 2CH(NH3) COO
Glutamic
Putrescine Degradation
(HYPERAMMONAEMIA)
as

O
H

HO CH 3 1.7 .1
e

2.3.1.76 CH2OH CH 3 O (C15)

2H+ NO2- .6 CO2 semialdehyde Vitamins Co-enzymes & Hormones
3.1.1.21 CH2OH CH3 Heme a 18
1. CH3COCOO OHCCOO Biosynthesis Degradation
S 5.2.1.7 6.3.4.16 6.3.5.5 CH2 CH2
Carbamoyl phosphate synthase
5

O
trans-Retinol 11-cis-Retinol Phylloquinone α-Tocopherol F1 Pyruvate Glyoxylate
5.

2.5.1.21 δ
3.

T Dark N2
6.

(Vitamin A) (Vitamin K) (Vitamin E) F6

CH CHCOO
H2NCOOP 2.6.1.13 Pentose Phosphate Pathway
E STEROIDS 2H+ CuB Heme a3 Carbamoyl-P +
H 2NCONHCH 2CH2CH2CH(NH3) COO Pyrroline-5-
N
(6.3.4.16)
2H+ ATP
R β ATP CITRULLINE carboxylate
4.1.3.16
Photosynthesis Dark Reactions CPS Deficiency
PORPHYRIAS O Progesterone
2e-
2
γ 3 OOCCH(OH)CH 2COCOO
β
MIM 237300
AD

β 2.1.3.3 4.1.1.17
H
AαT 4-Hydroxy-
P

H H 1.5.99.8
I HO HO HO HO
1.9.3.1
Pi
P +1 P i α 1.5.1.2
CH2 CH2
2-oxoglutarate
Human Metabolism is identified as far possible by black arrows

ADP +
2.1.3.3 Biosynthesis Degradation
D Pregnenolone CHOLESTEROL Desmosterol
H
Zymosterol
H
Lanosterol 5.4.99.7
Squalene
1/ O H+ + CH2 CHCOO
Porphobilinogen deaminase S 1.14.99.7 (C30)
2 2 IV
H+
H+
β
H2NCH2CH2CH2CH (NH3) COO
NH
Ornithine carbamoyl transferase
H+ γ F1 ORNITHINE 6.3.4.5
6.3.4.5
PROLINE
2.6.1.23 COMPARTMENTATION
(2.5.1.61) HEMOGLOBIN CHLOROPHYLL COO- H2 O
H+
+ The "Backbone" of metabolism involves (2.1.3.3)
COO- 1.14.11.2 OOCCH(OH)CH 2CH(NH 3)COO
Acute Intermittent Porphyria P CH2 CH2 CH2
COO- CH2 COO-
COO-
CH2
δ ε F0 2.1.4.1
H2NCONH 2
UREA
OOCCHCH 2COO
N 4-Hydroxy-
GLYCOLYSIS in the CYTOPLASM,
the TCA CYCLE (mainly) in the Mitochondrial matrix OCT Deficiency
CH3 COO- + HOCH CH2
MIM 176000 O CH H CH
CH H2 CH3 CH CH2 H2 CH3 H+ H2NCNHCH 2CH 2CH2CH(NH3) COO glutamate and ATP FORMATION spanning the
TRA N S L O

CH2 -OOC CH2 H CH2

R H3 C
C
CH H3 C
C 2
CH
C
C
2 CH2 CH2
H2NCH2C=O H+ H+
H+ Glycine + 3.5.3.1 3.5.3.6 Arginino- H2C CHCOO
MITOCHONDRIAL INNER MEMBRANE MIM 311250
N N
H3 C CH2
H 2C CH2
5-Amino- α s NH2 NO succinate
N
H 1.5.1.12
HOCH CH2
N N N N nit An electron flow (an electric current) generated from
P H H H H N
H H
N
COOlevulinate
c-sub-u
c +
H2NCNHCH 2CH2CH2CH (NH3) COO 1.14.13.39 HC CHCOO
NADH and UQH2 drives the translocation of protons
Uroporphyrinogen decarboxylase H
HC Fe CH H2 C
H H
CH2 H2 C
H H
CH2
H 2C CH2
-
AT HYDROXY 3-Hydroxy-
N
from the matrix to the intermembrane space.
Argininosuccinate synthase
C

N N N N N N
N
H H
N
-OOC
CH 2 E D PROTONS H+ H+ ARGININE PROLINE pyrroline-
The retrolocation of these protons through the F0 subunits
(4.1.1.37) Y H3 C
C
CH3 H3 C
C
CH3 H3 C
C
CH3
H 2C CH2 CH 2 H+ H+ 4.3.2.1 of ATP synthase to the matrix then supplies the energy
(6.3.4.5)
H2 C 4.2.1.24 5-carboxylate
R 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
Porphyria Cutanea Tarda I CH2 CH2
CH2 CH2
+ NH + NH2 + NH2 HN C Electron Flow Proton Flow Citrullinaemia
ATP
CH2 CH2 CH2 CH2 CH2 CH2 H2 C N 2
N CH 2
COO- COO- COO- COO- COO- COO-
H X Y H2NCNHCH 2COO H2NCN(CH 3)CH2COO P- HNCN(CH 3)CH2COO 1.5.1.2
MIM 176100 N 4.1.1.37
COO- COO-
2.5.1.61
H2 N
Guanidoacetate
2.1.1.2
Creatine 2.7.3.2 P-Creatine
CH3
Small Numbers ( eg. 2.4.6.7) refer to the IUBMB Enzyme MIM 215700
1.3.3.4 1.3.3.3 Creatinine
S HEME Protoporphyrinogen Coproporphyrinogen Uroporphyrinogen Porphobilinogen E NDE
RGONIC REACTIO N 3.5.2.10 Commission (EC) Reference Numbers of Enzymes
4.99.1.1 4.2.1.75
Protoporphyrinogen oxidase Argininosuccinate lyase
(1.3.3.4) (4.3.2.1)
Variegate Porphyria Argininosuccinate Aciduria
MIM 176200 MIM 207900

Designed by Donald Nicholson, The University of Leeds, England – and Sigma-Aldrich

© 2006 International Union of Biochemistry and Molecular Biology 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 Man)
web site, hosted by the John Hopkins University – www.ncbi.nlm.gov/entrez/query/fcgi?db=OMIM sigma-aldrich.com/pathways
GDS