Inborn Errors of Metabolism

GLYCOGEN STORAGE DISEASES AMINO ACID METABOLISM

BLOOD GROUP ALGINATES O-ANTIGENS

CONH 2 COO Fumarylacetoacetase
MUSCLE GLYCOGENOSES P GLYCOPROTEINS HYALURONIC ACID DERMATAN
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 +
N
NICOTINATE + COO
O MUCINS GLYCAN CH OHCHITIN CHONDROITIN PECTIN INULIN CELLULOSE
CH2OH
O
CH2OH
O NH NH O O O O Ribose- P 2.4.2
.11 N N RP
Tyrosinaemia Type I
Muscle glycogen phosphorylase L 2
O
HO Indoleacetate Indoxyl NAD( P) + 6.3.5.1
Desamino-NAD
2.7.7.18
Nicotinate- Quinolinate- A
Y CHOH
O O
COO - 2.4.1.68 1.1.1.132 HO CH3
O
OH
O
OH OH
(Auxin) 6.3.1.5
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 OPPT
2.4.1.21
OH OH
1.2.3.7
+
2.4.2.19
CH2OH 2.4.99.7 6.3.2.13 HO O OPPU HO OH OPPU O
CH3 2.4.1.29 2.4.1.1 HO CH2CH(NH3)COO HO CH 2CH2NH 2 HO CH2CH2NHCOCH 3 CH3O CH 2CH2NHCOCH 3 COO
GSD Type V McArdle Disease A
OPC CH3CH NHAC
2.4.1.17
OH OH OH LACTOSE CH2CHO
COO
M
COO- UDP- HO HO OPPG
GDP- TDP-Rhamnose 3.2.1.33
CH2OH
O
NH
4.1.1.28
NH
5-Hydroxytryptamine 2.3.1.5 N-Acetyl-serotonin
NH
2.1.1.4
NH N Phenylalanine hydroxylase
MIM 232600 C HO
UDP-N-Ac-Muramate Iduronate OH 2.4.1.11 HO 3.2.1.23 Indole-
NH
Indole
NH
5-Hydroxy- N-Acetyl-5-O-methyl-serotonin Quinolinate A
C CMP-N-Acetyl GDP-Fucose Mannuronate 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 CH2OH 5.1.3.13 O 3.2.1.108 Phenylketonuria (PKU)
HO
CH2OH
O COO 5.1.3.12
4.2.1.47
O OH OPPT
3.2.1.10
OH 4.1.1.43 + +
+
COCH2CH(NH 3)COO COO COO I
A CHOH
CHOH
O
COO
2.4.1.16
COO -
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
AcNH O
R OH OPPU O
HO OH HO OPPG CH2OH TDP-4-Oxo- Glucose 4.1.99.1 NH NH2 OH OH COO COO
CH2OH O 2.7.1.6 CH2OH
LIVER GLYCOGENOSES I OH 2.7.7.43 1.1.1.158 CH2OH NHCOCH 3
HO
GDP-Mannose 6-deoxyglucose
HO OH
OH
2.7.1.6
HO
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 OPPU kynurenine anthranilate muconate semialdehyde 6-semialdehyde
D HO UDP-N-Ac-
OH OPPU
CH2OH
HO OH HO OH
GDP-Glucose HO OH OP 2.4.1.22 1.13.11.11 COO H H Catechol M Tyrosinase
N-Ac-Neuraminate OH
Amylo-1,6-glucosidase Galactosamine UDP-Glucose

1.
E HO O O
MANNOSE + COO
I (1.14.18.1)

4.
(Sialate) OPPU UDP- 2.7.7.13 4.2.1.46 OH CH2CH(NH 3)COO NH C C CH CH2OP 1.2.1.32

1.
C-CH(OH)CH(OH)CH 2OP HOC-CH(OH)CH(OH)CH 2OP
CH2 C COO
1.1.1.2
2 Galactose-P CH2CH 2NH2 COO

19
(3.2.1.33) S CH2OP NHAC Galacturonate 2.7.1.7 2.7.7.27 CH CH OH OH 1.14.12.1 N
O
UDP-N-Ac-
COO O HO OH HO O P
Mannose-1-P
CH 2OH
O
NH
4.1.1.28
NH
4.2.1.20 N
H N
H 4.1.1.48
O
2.4.2.18
NH2
OOC NH 2
O
Tyrosine Negative Albinism
5.1.3.7 2.7.7.34 Tryptamine Indole-3-glycerol-P 1-(o-Carboxy phenylamino) N-(5-P-Ribosyl) Anthranilate
Glucanotransferase ACNH
HO OH OH
3.1.3.29
4.1.3.20 Glucosamine HO OH OPPU 5.1.3.6 CH 2OP
O
TDP-Glucose 2.7.7.9 5.1.3.2 HO
2.7.7.10 COO
TRYPTOPHAN 1-deoxyribulose-5-P anthranilate
OOC
2-Amino MIM 203100
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
CH2OH CH2OH CH2OP
GSD Type III Cori Disease CH2OH
O O 4.1.3.20 O O
HOCH HCOH
C OH OH HO OH
CH2
O-C-COO
CH2
C Glycine dehydrogenase
PO OH P O
H 2.7.1.60 Mannose-6-P CH 2OP HO OH OP UDP-Galactose H OH O OH
O
OH OH OH OH OH OC-COO OH I
MIM 232400 ACNH
HO OH OH HO OH OPPU HO OH OP HO OH OH
2.4.1.13
O HO 3-Deoxy-D-arabino-
4.6.1.3
Dehydro-
4.2.1.10
Dehydro-
1.1.1.25
Shikimate
2.7.1.71
Shikimate-3-P
2.5.1.19
Shikimate-5 4.6.1.4 Chorismate
5.4.99.5
Prephenate D (1.4.4.2)
E 2.4.1.9
heptulosonate-7-P quinate shikimate enolpyruvate 3-P
X N-Ac-Mannosamine
NHAC
UDP-N-Ac-Glucosamine N-Ac-Glucosamine-1-P
NHCOCH 3 5.4.2.3 NHCOCH 3
N-Ac-Glucosamine-6-P HO OH OH
Glucose-1-P CH2OH
O O
OH CH2COCOO
PEP
CH2CH(NH3) COO
+
CH2CH(NH3) COO
+
CH2COCOO
S Non Ketotic Hyperglycinaemia
CH2COO 4.2.1.51
Glucose-6-phosphatase O 5.1.3.14 2.7.7.23
H H OH
2.3.1
.4 NH2
O
-OOC
O
CH2COO
O
CH2COO
1.3.1.13
(NKH)
S
COO OH OH OH OH
Glucosamine-6-P COO 1.14.16.1
(3.1.3.9) O
OH OP
HOCH 2 C C C CO CH2OH
5.3.1.8
5.4.2.2
HO OH OH
Fumaryl 5.2.1.2 Maleyl 1.13.11.5 Homogentisate
OH
1.13.11.27
OH
Hydroxyphenyl 2.6.1.5
OH

TYROSINE PHENYLALANINE
2.6.1.5
Phenylpyruvate MIM 238300
E OH H OH OH
OH OH H OH 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
acetoacetate acetoacetate 1.3.1.13 pyruvate
+
1.3.1.13
.5

CHOHCH 2NHCH 3 CHOHCH 2NH2 CH2CH(NH3) COO-

MIM 232200 H OH H
Gulonate
H
1.1.1.19
Glucuronate
OH
1.13.99.1
Inositol
OH
3.1.3.25
Inositol-P
OH

5.5.1.4
CH2CH2NH2 4.1
.1.2
5
CH2CH2NH2 CH=CHCOO
C
OH H OH OH OH H OH 1 3.1.3.9 OH OH OH OH 1.14.18.1 Ubiquinone Cinnamate A
3.1.1.18 HOCH 2 C C C C CO HOCH 2 C C C CO CO
OH H OH OH 1.1.1.2 ATP OH OH OH OH Menaquinone
H H H H H
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
2.7.1.1 (Adrenaline) (Noradrenaline)
O O H O HOCH 2 C C C C CH2OH
2.6.1.16 CHOHCH 2NH2 HN O E
Gulonolactone 1.1.3.8 2-Oxogulonolactone ASCORBATE
1.10.2.1
OH OH H OH
2.7 HO OH
O ADP
CH2 OP
3.7.1.2 .1.
1. 6 1.14.18.1 H2 I I CH=CHCOO
C PURINE & PYRIMIDINE
Sorbitol 2
α-Tocopherol Coumarate
OH H OH OH H OH H .1. O C
1.1.1.45 1.10.3.3 1.1.1.49 OCH 3 O
HOCH 2 C C CO C COO- HOCH 2 C C CO CO COO - HOCH2 C C CO CO CO
4 OH
P-Glucono Glucose-6-P
O
CH(OH)COO OH CHOHCH 2OH (Vitamin E) +
CH-COO
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
5.3.1.8 5.3.1.9 4-OH-3-Methoxy- 4-OH-3-Methoxy- Plastoquinone MELANIN THYROXINE LIGNIN Tannins Plant Pigments A Xanthine oxidase
N OH OH H
OH
6-P-Gluconate NADPH
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
CH2OP
(1.1.3.22)
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 +
O
OOC-CH-CH 2COO I Xanthinuria
Sucrase-isomaltase OH H H OH H OH H
OH OH H 1.1.1.44
2.2.1.1
H H HO NHCOCH 2NH2
H 2C
NH
H 2C
NH
HC
N OOC
C
N
HNCO C N
O
C N
N
S Fructose-1-P POCH2 C C C CO CH2OH CHO CHO CH CH
C
CH H 2N C CH
MIM 278300
(3.2.1.10) E HOCH 2 C C C CH2OH HOCH 2 C C CO CH 2OH POCH2 C C CO CH2OH
H H H NADPH
OH OH H
OH OH
OC
NH
RP
HN C
NH
RP
H 2N C
N
RP H2 N
C
N
RP
H 2N
N
RP H 2N
C N RP E
H OH OH H OH H OH 5.1.3.1 Fructose-6-P 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 6.3.2.6 S
Sucrose-Isomaltose Malabsorption 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
OH OH H H OH H H OH H OH OH OH
POCH2 C C CO CH2OH ATP H2 N
CH
Hypoxanthine guanine
MIM 609845 HOCH 2 C C C CHO HOCH 2 C C C CH 2OH HOCH 2 C C C CHO
Ribitol OH OH H H 2.7.1.11 H2N OC NH
O
NH O 2.4.2.8 2.1.2.3
HCO
NH
C
N RP

H H OH 1.1.1.10 OH H OH OH H OH D-Ribulose-5-P POCH 2 C C CHO 3.1.3.11

6.3.4.13
H2NCONH 2
Urea
H 2N COO NH2
CO CO HN
C
C CO HN
C
C
N
HN
O
C
C
N
Inosine 3.1.3
Formylamido- phospho-ribosyl transferase
3.2.2.2
2.7.1.47 ADP OC C CH CH
5.3 H OC C OC C .5 imidazole-
Lactase
L-Arabinose
OH H H
.1.
4
Xylitol
OH OH
D-Xylose
OH OH HOCH 2 C
H H
C C CHO 5.1.3.1
Erythrose-4-P
OH OH
3.5.3.4
N H
H
NH
3.5.2.5
N H NH
H
1.7.3.3
N
H
NH
1.1.3.22
OC
NH
C
NH
HC
1.1.3.22
N
C
NH
2.4.2.1 carboxamide-R P (2.4.2.8)
H H HO
Allantoate Allantoin URATE Xanthine Hypoxanthine
(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
2
OH OH OH
POCH 2 C C C CO CH2OP
+
CH2(NH3)COOH NH2
N
3.5.4.10 O
C N HGPRT Deficiency, Primary Gout,
D-Ribose .1.
4 NH2 N 3.5.4.4 HN C

Lactose Intolerance L-Lyxose

H OH OH H H
L-Ribulose 2.7.1.16 L-Ribulose-5-P
H H
5.1.3.4 5.3.1.6
H
C
OH
C CO CH 2OH
OH OH H
CH2OP
2.6 .10
.1
GLYCINE
0 O
N
N
CH O O O HC
N
CH NH
N N
C
2
C
N
CH
OOC-CH-CH 2COO
Adenosine HC
N
C
N RP
P Lesch-Nyhan Syndrome
H OH 2.7
POCH 2 4.1.2.-
2.2.1.2 Fructose- O NH2 1.4 .1
1
.2 HC
N N -O P~O P~O P O CH
2 O HC C
CH NH
C N
INOSINE-P U MIM 308000
OH H
2. O P O CH2 O
MIM 223000 1.1.1
.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) Fumarate N
HC
C
C
CH Aspartate
(IMP) R
OH H Sarcosine OH OH 2.7.4.3 N NH RP
2.7.1.17 OH OH O 2.7.4.6 2.7.4.4 4.3.2.2 O I
Adenylo- 6.3.4.4
D-Xylulose P-Ribosyl
Glyoxylate OH
4.6.1.1 ATP ADP ADENOSINE-P C N
Adenosine deaminase
Galactokinase
1.5.99.2 Cyclic AMP (AMP) succinate 3.1.4.6
HN C CH N
H+
H H H amine 1.17.4.1 1.1.1.205 OC C
H+ PHOTO- H+
H H H OH
OOCCH 2N(CH3)2
1.4.4.2
2H-folate d-ADP 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
2.4.2.1
XANTHOSINE-P S
PHOTO-
C
tion l
No (electric cur on flo
OH OH OH
1.5.1.3 2.7.4.6
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
OH OH OH H
2.1.1.5 2.7.7
.7
2.7.7.7
O
II
H+ 4H-folate 1.1 Guanine 6.3.4.1 C N
Immuno-Deficiency (SCID)
w

7.4
*-
2.4.2 HN C
MIM 230200 P 2.2.1.1
+
d-ATP 2.7 .1 .1 6.3.5.2 CH

2e- PQ 2e-
2e H+ OOCCH2N(CH3)3 .7.7 d-CTP H2 N C C
MIM 102700
H
PQH2
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 1e- 1e-
PQ
H+ 3-P-Glyceraldehyde ACID 2.7 GUANOSINE-P
NADP+
1.2.1.8 1.17.4
Fe-S HOCH2COCH2OP
2.2.1.1 .7.6 TTP 2.7.
Galactose-1-phosphate T PQH2 Cyt bf
Dihydroxy- .1 + 1.4.4.2 C1 4.6 .1 (GMP)
QA 2e- A1 H+ 5.3.1 2.4.2.14 OHCCH 2N(CH3)3
O H+ acetone-P Pi 6.3.4.7 Betaine POOL NH2
P
uridyl transferase S Pheophytin Cyt bc Chl.A0
Pi 4.2.1.2
0 O O 2.7 TDP
O O C

NADPH+H+
.1 C CH
(Glycerone-P) 5.3.1 aldehyde 4.1.2.5 C . 7.6 C N
Y
. NAD+ C 2.7 C-CH3
_ 2e- HN CH-CH3 C CH3 .4.9 HN HN CH CH
(2.7.7.12) Y P680 2PQH2
2PQ 2PQ 2.7.1.28 CH3
CH3
OC CH 2
HN
OC CH 2.1.1.45 OC CH
OC
N
R
N Chl.a
2e- PC
P700 Pi ADP +
1.1.99.1
H2NCH 2 CHCOO H2NCONHCH 2CHCOO NH
OC CH
2.4.2.4
N
DP N DP
3.5.4.12 2.7.4.14
DP
2e- H+ NH
Classical Galactosaemia T Mn Fe-S 2e- Cyt.f H+
H+
Glyceraldehyde 1.2.1.12
HOCH2CH2N (CH3) 3
CHOLINE 3-Amino- 3.5.1.6
ß-Ureido 3.5.2.2
Dihydro 1.3.1.2 Thymine THYMIDINE-P d-UMP d-CMP d-CDP I
FOLIC ACID
PC PC
Ribulose-1,5-bis-P isobutyrate isobutyrate thymine O
α
α

M
α

1.2.1.13 + O NH 2
1

2.4.2
MIM 606999 H 4H+ Pi HOCH2CH(NH3)COO 2. C C C
a

H+ H+ H+ 4.2.1.22 1. CH2 .4
NADH HN HN CH
8
β

H 2O 1. N CH
Translocated protons ADP 1.17.4.1
I
8
H+ SERINE
2

CO2
13
E
β

OC CH2 OC CH
1

CH
H+ H+ 2.6.1.51 H2NCONHCH 2CH 2COO OC
H+ H+ H+ H+ H+ CH2OP 4.1.1.11 N H
H+
NH
H+ H2NCH 2CH2COO
D Dihydrofolate reductase
3

NH
S
3

H+
Protons from Water H+ H+
γ ATP Fixation
O
POCH 2CHOHCOO P 1.4.1.7
ß-Alanine
3.5.1.6 Carbamoyl 3.5.2.2 Dihydro- 1.3.1.2
Uracil
3.5.4.1
Cytosine
CDP
H+
O2 I
NH 2
I H+ ß-alanine uracil
H+

εε

1:3-bis-P-Glycerate
2

H+ H+ +
c

+
2

H+ H β2 2.7.6.1 HOCH2COCOO O
H H+ H+ H+ H+ -OOC O O C
CH 2.7.4.6 (1.5.1.3)
α
α

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

THYLAKOID LUMEN CH2 HN CH

α

H+
OH OH HN HN CH HN OC CH
ATP 2.4.2.9
THYLAKOID MEMBRANE P-Ribosyl-PP pyruvate
+
OC
N
CH-COO
H
OC
NH
CH-COO OC
NH
C-COO OC
N
C-COO
RP
OC N CH
RP
OC
N
CH
RPPP
N
RPPP E Megaloblastic Anaemia
ADP ADP P OCH2CH(NH3)COO 6.3.4.2
S
STROMA 3.6.1.34 Phospho- Carbamoyl
3.5.2.3
Dihydro Orotate Orotidine-P Uridine-P
4.1.1.23 (UMP) 2.7.4.4
UDP URIDINE- CYTIDINE- MIM 126060
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)
HO HO
PEROXISOMAL DEFECTS COO 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
γ-Linolenate
1.14.99.25 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
Linoleate Arachidonate 1.13.11.34 Leukotriene B4 OH
POCH2CHOH COO
1.1.1.95
P OCH2COCOO
HC C
CH
HC C
CH
HC C
CH
P OCH 2 C C C CH
COO 5.3 O
3-P-Glycerate P-Hydroxy- OH OH
N N OH OH
N N OH OH
N 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 O 2.4.2.17
aminotransferase L
COSCoA CO-S-ACP
HO OH 5.3.99.5
HO
OH 2.7.1.31
HC C CH 2CHCOO
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 + carboxamide-R P carboxamide-R P+
(2.6.1.44) 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
+
CH2CH(NH 3)CHO
+
HC C CH 2CH(NH 3)CH2OH HC C CH2CH(NH 3)CH2OP
HC C CH2COCH 2OP
4.2.1.19
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 NH
N NH
Hyperoxaluria Type 1 I Stearoyl-CoA Dehydrostearoyl-CoA OH-Stearoyl-CoA Oxostearoyl-CoA CH 3COO
CH N
CH
NH N
CH
NH
CH
C
H Propionyl-CoA carboxylase
CH3(CH2)14COCH 2COS-CoA
HISTIDINE Histidinal Histidinol Histidinol-P Imidazole
MIM 259900 D Endoplasmic Reticulum ACETATE 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)
CH3(CH2)14COS-ACP CH 3(CH2)14COSCoA HOCH2CH(O P)COO HC C CH2CH2NH2

B
Palmitoyl-ACP Palmitoyl-CoA
Chain elongation Mitochondrial
2-P-Glycerate N NH
OOC CHCH 2CH2COO OC CHCH 2CH2COO CH C CH CHCOO Propionic Acidaemia
1.2.1.4 C HN NH N NH N NH 4.3.1.3
I ACYL-ACP 1.3.1.9
2,
CH3(CH2)n CH=CHCOS-CoA
3-Enoyl-ACP 4.2.1.60
CH 3(CH2)n CH(OH)CH 2COSACP
3-OH-Acyl-ACP 1.1.1.100
CH 3(CH2)n COCH 2COSACP
3-Oxoacyl-ACP
H HISTAMINE CH
Formimino
3.5.2.7 CH
Imidazolone
4.2.1.49 CH
Urocanate
MIM 606054
1.3.1.10 4.2.1.61 CH3CH 2OH
O 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
Glycine
+
Y Decanoyl-ACP 1.3.1 3-OH-Decanoyl-ACP
1.1.1.100
3-Oxo-Decanoyl-ACP 1.1.1.1
CH2CO-OCH2CH(NH 3)COO
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
Acetylserine HS 1.8.99.1 1.8.99.2
sulphate 2.7.1.25 (APS) 2.7.7.4 (5.4.99.2)
CH3CHO +
LIPID METABOLISM T CH 3(CH2)2CH 2CH2COSACP CH3(CH2)2CH=CHCO-S-ACP CH3(CH2)2CH(OH)CH 2COSACP CH3(CH2)2COCH 2COSACP P-enolpyruvate Acetaldehyde
S-CH 2CH(NH 3)COO
+
4.2
.99 +
+
CH2CH(NH 3)COO
(PAPS)
+ Methylmalonic Acidaemia
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 + 4.2.1.22 + CH 3 SCH CH CH(NH )COO
2 2 3

CH3CH=CHCO.S-ACP 2.3.1.41 2.6.1.44 HS CYSTINE CYSTEINE

4.4.1.1 SCH 2CH2CH(NH 3)COO 4.2.1.22 HSCH 2CH2CH(NH 3)COO
2.1.1.13
METHIONINE
1.2.1.32 MIM 251000
E 1.6.4.1
4.2.99.9
Cystathionine 4.4.1.8
Homocysteine 2.1.1.14
Hydroxymethylglutaryl CoA lyase S CH3CH2CH2COSACP
1.3.1.9
CH3CH=CHCO-S-ACP
4.2.1.58
CH3CH(OH)CH 2COS-ACP
1.1.1.100
CH3COCH 2COSACP ADP
4.1
.1.
1
1.13.11.20 Adenosyl
(4.1.3.4) I Butanoyl-ACP Crotonoyl-ACP 3-OH-Butanoyl-ACP
CH2OH CH2OH
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
+ + + 2 2 3
S R-CH2COO 1.1.1.8 HO 2SCH 2CH(NH 3)COO HO3SCH 2CH(NH 3)COO
S-Adenosyl S-Adenosyl (1.3.99.10)
Ketone Synthesis Defect CH3(CH2)n+2COS-CoA
FATTY ACID
HOCH
CH2OH
HOCH
CH2O P
2.3.1.41
2
ATP 4.4.1.15 HSO3- Cysteine Cysteate homocysteine
2.1.1.10
methionine
MIM 246450 ACYL-CoA
6.2.1.3 3.1.2.20
Glycerol
2.7.1.30
3-P-Glycerol
2.3.1.39
3.7
.1.
HO2SCH 2COCOO
sulphinate 4.1
.1.
29
6.3.2
.2 +
CH2SH
2.1.1.20
(SAM) Isovaleric Acidaemia
(Cytosol) KETONE BODIES
2.3.1.15 2.3.1.51 CH3COCH 3 CH3CH(OH)CH 2COO
PYRUVATE 1.4.1.1 +
3-Sulphinyl
pyruvate HO2SCH 2CH2NH2 HO3SCH 2CH2NH2
OOCCH(NH 3)CH2CH2CONHCHCOO
γ-Glutamylcysteine MIM 243500
2.3.1.7 HOOCCH 2CO-SCoA 1.8.1.3
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
1.8.1.4
ALANINE 4.1.2.5
4.1.1.29
+
OOCCH2CH2COOCH2CH2CH(NH 3)COO
6.3.2
.3
+
CH2SH
OOCCH(NH 3)CH2CH2CONHCHCONHCH 2COO
L O-Acyl-carnitine
R’-CO-OCH R’-CO-OCH 4.1.1.4 1.1.1.30 4.1.3
CoA dehydrogenase I Triacylglycerol
CH2O-CO-R"
CH2OH CH2O P CH3COCH 2COO
CH 3CO-S-ACP
Acetyl-ACP
4.1.1.9 .18
4.1.1.12
+
Succinylhomoserine
Bile Acids
Glutathione
Diacyl Acetoacetate 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
Phosphatidate
3.1.2.11 2.3.1.38
.1.27 2.6.1.18 POCH 2CH2CH(NH 3)COO
O-Phospho- 2.7.1.39Homoserine
HOCH 2CH2CH(NH 3)COO

3.1.1.28 CH3COCOO- THREONINE HOCH 2 C(CH 3)2COCOO

MCAD Deficiency I CH3CH(OH)COO

4.2.99.2
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
CH3
+ AMINO ACID METABOLISM
1.1.1.3
MIM 607008 ACYL-CoA CH3(CH2)n CH=CHCOSCoA
4.2.1.17
CH3(CH n CH(OH)CH 2COSCoA
1.1.1.35
CH3(CH2)n COCH 2COSCoA 4.
2. Malonic
COO C (OH)CH(OH)COO CHCOCOO
CHCH(NH 3)COO 1.1.1.169
(Mitochondria) 1.3.99.3
2, 3-Enoyl-CoA 3-OH-Acyl-CoA 3-Oxoacyl-CoA 2.3.1 NAD HOH 1. 4.2.1.16 CH3COC(OH)CH 3 CH3 CH3 2.6.1.32
CH3
D CH3(CH2)2CH2CH2COSCoA CH3(CH2)2CH=CHCOSCoA CH3(CH2)2CH(OH)CH 2COSCoA CH3(CH2)2COCH 2COSCoA
.16
ATP 1.2.4.1
2.3.1.12 GDP
52 semi-
2-Acetolactate
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

E 1.3.99.3 4.2.1.17 1.1.1.35

2.3.1.1 3.1.3.43 1.2.1.18 aldehyde Pantoate Cystathionine synthetase
Hexanoyl-CoA 2, 3-Hexenoyl-CoA 3-OH-Hexanoyl-CoA 3-Oxohexanoyl-CoA 6 CO2 CO2
CH3CH2COCOO isovalerate isovalerate ß-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 3 CH CH 3 3
6.3.2.1 (4.2.1.22)
R Butanoyl-CoA
1.3.99.2
Crotonoyl-CoA
4.2.1.55
3-OH-Butanoyl-CoA
1.1.1.157
Acetoacetyl-CoA NADH+H+ HOCH 2CHCOO HOCH 2CHCOS-CoA- CH2 = CCOSCoA CH3CHCO-SCoA

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
HOCH 2 C(CH3)2CH(OH)CO NHCH 2CH2COO
PANTOTHENATE Homocystinuria
CH3 8
D
CH 3CH2CH 2CH2COSCoA CH3CH2CH=CHCOSCoA CH3CH2CH(OH)CH 2COSCoA CH3CH2COCH 2COSCoA
4.1.3.5 ACETYL-CoA .31 isobutyrate Isobutyryl-CoA acrylyl-CoA MIM 236200
Pentanoyl-CoA Pentenoyl-CoA 3-OH-Pentanoyl-CoA
1.1.1.35
3-Oxopentanoyl-CoA 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 CHCH(NH 3)COO
SPHINGOLIPIDOSES T COO C(OH)CH(OH)COO CHCOCOO
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 2.6.1.1
2.3.1
.16
2:3-Di-OH-
hydroxy- 1.1.1.86 3-methylvalerate valerate
ISOLEUCINE COO decarboxylase
Acid-ß-glucosidase N CH2O-PO 1.3.99.7 CH 2O PO CH 2CHNH 3 CH2O POCMP 1.1.1.79 NADH+H+ P OCH 2C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCHCH 2SH

O - HO OH - O Serine O 1.2.3.5
CH3C(OH)CH 2COSCoA
ß-OH-ß-Methyl- 4.1.3.7
CH2COO-
butyrate 4-P-Pantothenylcysteine (1.2.4.4)
2.7.8.8 4.2.1.1 NAD+ CH3 CH 3 CH3 CH 3
1.2.4.4
(3.2.1.45) OH PHOSPHATIDYL
2.7.8.11 Inositol
CDP-diacyl
glycerol
HOCH 2COO
Glycolate glutaryl-CoA 8 4.1.3.8 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 CH 2O-CO-R’ 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
Oxalate FMN I 4.1.3.2
MIM 230800 4.1.1.65
R'-CO-OCH O O HCO-CO-R R'-CO-OCH O 2.7.8.5 HOCH 2CHO
I -OOCCHO
Glyoxylate
4.2.1.3
CH 3CH2COSCoA
butyryl-CoA 4-P-Pantetheine
P CH 2O-CO-R CH2 O-POCH 2CH(OH)CH 2 O-P-OCH 2
-
CH2O-PO CH 2CHOHCH 2OH Glycol
CH2COO Cycle
CH(OH)COO-
CHCOO-
Propanoyl-CoA 2.7.7.3
-
1.6.5.3

H R'-CO-OCH O
O O O- aldehyde 1.1.1.37
- 2.1.3.1 COOH COOH +
+ Cardiolipin Phosphatidylglycerol CH3C(OH)CH 2CHO 2COO (CH3)2CHCH 2 CH(NH 3)COO
FMNH2 4.1.1.41 6.4.1.3
Hexosaminidase A O CH 2O P OCH 2CH2 NH 3
O-
+
CPP- OCH 2CH2 NH3
+
POCH2CH2 NH3
1.4.3.8
+
Mevaldate
+
ISOCITRATE 5.1.99.1
(CH3)2CHC(OH)CH 2COO
2-Isopropyl-
(CH3)2CHCHCH(OH)COO
3-Isopropyl- 1.1.1.85 Oxoleucine
(CH3)2CHCH 2COCOO 2.6.1.6
LEUCINE
ADP- OCH2 C(CH 3)2CH(OH)CONHCH 2CH2CO NHCH 2CH2SH
Dephospho-Coenzyme A
(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
1.1.1.32
2H 4.1.3.1 1.1.1.41 CH3 malate 4.2.1.33
malate 1.4.1.9
Phosphatidyl Ethanolamine 2Fe -S CH3CH(OH)CH2CO.SCoA
2.7.1.24
P CH2OH OOC-CH-COSCoA 1.2.4.4
Tay Sachs Disease H
ethanolamine
CEPHALIN
CH2O-CO-R HOCH O CH3COCH 2CH2N(CH 3 )3
(5 Clusters) MALATE -OOCCOCH CH COO- Methylmalonyl-CoA 4.2.1.18
CH3
OOCCH 2C = CHCOSCoA
CH3
CH3C = CHCOSCoA (CH3)2CHCH 2COSCoA P-ADP- OCH 2 C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCH 2CH2SH GABA METABOLISM
4H+
+ 4.1.1.71
4H+
2 2
MIM 272800
HOCH O CH2OPO CH2CH 2N(CH 3) Acetylcholine CH C(OH)CH
2 CH COO
3-Methyl-
6.4.1.4
3-Methyl- Isovaleryl-CoA A
O 2.1.1.17
+
CH2OPO CH2CH2N(CH 3)3
3.1.1.5
- O
Glycerophosphocholine 3.1 3 2 CH2OH 1.6. 5.3
2-OXO- ASPARTATE 2.7.2 4.2.1.18
glutaconyl-CoA crotonyl-CoA 1.3.99.10
Coenzyme A
M NEUROTRANSMITTER DEFECTS
L CH2OCH=CHR 2.1.1.71 O - Lysolecithin .4.2 Mevalonate 2H+ 4.2.1.2 GLUTARATE .4
1.1.1.3
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 3.1.4.3 +
Sphingomyelinase P CH2OPO CH2CH2N(CH 3)3
-
+
CH2OPOCH2CH2N(CH 3)3 + + +
2.7.4.2 OOCCH=CHCOO- 4.3.1.1
P OOCCH 2CH(NH3)COO
Aspartyl-P H H2 OOCCH 2CH2CONH
+
NH3
N Succinic semialdehyde
O O - CPP-O CH2CH2N(CH 3)3 OCH 2CH2N(CH 3)3 HOCH 2CH2N(CH 3)3 FUMARATE 1.2 C C
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
OOCC
CH 2
CH-COO
H 2C CH2
CH-COO
OOCCH 2CH2CONH OOCCHCH 2CH2CH 2CH-COO
+
OOCCH-CH 2CH2CH2CHCOO
+ dehydrogenase
plasmalogen 1.3.1.35 2.7.8.2 2.7.1.32 OOCC
.8.3 FADH2 -OOCCH2CH2CO.SCoA OOCCOCH 2CH2CH2CH-COO NH3 NH 3
Niemann-Pick Disease D 2.7 3.1.4.12 CH3C(OH)CH 2CH2OPP + 5.4.99.2
OHCCH 2CH (NH3)COO
Aspartyl 4.2.1.52 2, 3-Dihydro-1.3.1.26 Piperideine-
N N
N-Succinyl- 2.6.1.17 N-Succinyl-2, 6 3.5.1.18 Diamino- (1.2.1.24)
S
Serine +NH +
NH 3
+
NH 3
+
NH 3 Diphospho- Fe-S 1.3.5.1 SUCCINYL-CoA OOCCH 2CH2CHO A
2.3.1.50 3
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 mevalonate
Cyt.b
6.2.1.4
-OOCCH2CH2COO- semialdehyde pimelate 4-Hydroxybutyric Aciduria
Dehydrosphingosine Sphingosine 4-Sphingenin Psychosine FAD 1.2.1.16 OH .7
5.1.1 0
I
1.1.1.102
UQ SUCCINATE Glycine
1.2.1.24 +
(CH3)3NCH2CH(OH)CH 2COO
+ +
(CH3)3N(CH 2)3 CH2CH(NH 3)COO
+ +
(CH3)3N(CH 2)3 CH2CH(NH 3)COO
+
H2N(CH 2)4 CH(NH 3)COO .2
D MIM 271980
UDP-Sugars Acyl-CoA 4.1.1
2.4.1.23 II
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
NHCOR Asparagine
O
+
CH3(CH2)12CH=CHCH(OH)CHCH 2O PO CH2CH2N(CH 3)3
- CH3(CH2)12CH=CHCH(OH)CHCH 2OH
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
1.10.2.2
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 + 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 S Lycopene (C40) Phytoene Dimethylallyl-PP . III 1e- _ R-CO-COO (GABA) H2N(CH 2)3NH(CH2)4NH (CH2)3NH2
CH3-SCH 2CH2CHNH 2
+
GABA Transferase Deficiency
(C40) (C5) 2e-
TRA

UQ. 2-OXO ACID Spermine S-Adenosylmethyl

O To Brain - VISION
CH3
2.5.1.1
Fe-S +
1.
1 .1
5
thiopropylamine LEGEND MIM 137150
hv CH 3
1e- 2.6.1.- OOCCH 2CH 2CH (NH3) COO
4.
NS

P ß-CAROTENE (C40) 2.5.1.32 2.5.1.29

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

R Metarhodopsin Rhodopsin O
CH2OPP Geranyl-PP NA
TIO N GLUTAMATE 2.7.2 +
.11 POOCCH CH CH(NH
2.5.1.22 Carbohydrates Amino Acids
(1.9.3.1) E 1.13.11.21 CH3O CH3
Geranyl-geranyl-PP (C10) Cyt.c1 2 2 3 ) COO H2N(CH 2)4NH (CH2)3NH2
Biosynthesis Biosynthesis
COO- Opsin CH3O (C20) Glutamyl-P Spermidine Degradation Degradation
N
n
2UQ UQ
Complex IV Retinoate
O Ubiquinone 2.5.1.10 1.10.2.2
1.4.1.14 3.5.1.2
O CHO (Coenzyme Q) OPP Cyt.c 1.4.1.2
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 tra
nsp 3.6.1.34 synt H2NOCCH 2CH2CH (NH3) COO + H2NCH2CH2CH2CH2NH2

S CH3 +-
h 1.6.6.1
1.7.99.4 .7.
1.7 .6.4
1
ATP
Glutamine OHCCH 2CH 2CH(NH3) COO
Glutamic
Putrescine Degradation
(HYPERAMMONAEMIA)
as

Farnesyl-PP oscp
H

O HO
1.6 .1
e

CH 3
2H+ semialdehyde
2.3.1.76
3.1.1.21
CH2OH CH 3 O (C15)
Heme a NO2- 18
.6 CO2 Vitamins Co-enzymes & Hormones
1.
CH2OH CH3 CH3COCOO OHCCOO Biosynthesis Degradation
S 5.2.1.7 6.3.4.16 6.3.5.5
5

α-Tocopherol
O CH2 CH2
Carbamoyl phosphate synthase
5.

trans-Retinol 11-cis-Retinol Phylloquinone δ F1 Pyruvate Glyoxylate

3.

Dark 2.5.1.21
6.

T (Vitamin A) (Vitamin K) (Vitamin E) F6 N2

2.6.1.13
CH CHCOO
Pentose Phosphate Pathway
E STEROIDS 2H+ CuB Heme a3 Carbamoyl-P
H2NCOOP
+
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 2e-
2
γ 3 OOCCH(OH)CH 2COCOO
β
MIM 237300
AD

Progesterone β 2.1.3.3 4.1.1.17

P

H
I HO
H
HO
H
1.9.3.1 P +1 P i AαT 1.5.99.8
CH2 CH2
4-Hydroxy- Human Metabolism is identified as far possible by black arrows
HO HO α
Pi 2.1.3.3 1.5.1.2 2-oxoglutarate
ADP +
H
1/ O Biosynthesis Degradation
D Pregnenolone CHOLESTEROL Desmosterol Zymosterol
H
Lanosterol 5.4.99.7
Squalene 2 2 H+ + CH2 CHCOO
Porphobilinogen deaminase S 1.14.99.7 (C30)
IV
H+
H+
β
H2NCH2CH2CH2CH (NH3) COO
NH
Ornithine carbamoyl transferase
H+ γ F1 ORNITHINE 6.3.4.5 2.6.1.23 COMPARTMENTATION
(4.3.1.8) HEMOGLOBIN CHLOROPHYLL COO- H2 O
H+
6.3.4.5
PROLINE + The "Backbone" of metabolism involves (2.1.3.3)
COO- 1.14.11.2
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
OOCCH(OH)CH 2CH(NH 3)COO
4-Hydroxy-
GLYCOLYSIS in the CYTOPLASM,
the TCA CYCLE (mainly) in the Mitochondrial matrix OCT Deficiency
CH CH3 CH COO- + HOCH CH2
MIM 176000 O H H2 CH3 CH CH2 H2 CH3 H+ H2NCNHCH 2CH 2CH2CH(NH3) COO glutamate
TRA N S L O

CH CH2 CH2 and ATP FORMATION spanning the

R H3 C
C
CH H3 C
C 2
CH H3 C
C
CH2
-OOC CH2 H
C
2 CH2 CH2
H2NCH2C=O H+ H+
H+ Glycine + 3.5.3.1 3.5.3.6 Arginino- H2C
N
CHCOO
CH2
MITOCHONDRIAL INNER MEMBRANE MIM 300161
N N H 2C CH2
5-Amino- α s NH2 NO succinate H 1.5.1.12
HOCH
N N N N nit An electron flow (an electric current) generated from
P HC Fe CH H2 C
H H
CH2 H2 C
H H
CH2
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 H H H H 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 4.2.1.24 H+ H+ 4.3.2.1 of ATP synthase to the matrix then supplies the energy
(6.3.4.5)
H - C H2 C
ADP Pi 5-carboxylate needed to form ATP from ADP and phosphate
R CH2 CH2 CH2 H2 CH2 CH2 H2 CH2 OOC COO- NH CO
Porphyria Cutanea Tarda I CH2 CH2 CH2 CH2 CH2 CH2
CH2 H2 CH2
H2 C N
+ NH
2
+ NH2 + NH2 HN C Electron Flow Proton Flow Citrullinaemia
MIM 176100 COO- COO- COO- COO- COO- COO-
CH2
COO-
CH2
COO-
H X ATP Y H2NCNHCH 2COO H2NCN(CH 3)CH2COO P- HNCN(CH 3)CH2COO
N CH 2
1.5.1.2
N 1.3.3.4 1.3.3.3
4.1.1.37 4.3.1.8
H2 N
Guanidoacetate
2.1.1.2
Creatine 2.7.3.2 P-Creatine Creatinine
CH3
Small Numbers ( eg. 2.4.6.7) refer to the IUBMBEnzyme MIM 215700
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 th John Hopkins University – www.ncbi.nlm.gov/entrez/query/fcgi?db=OMIM sigma-aldrich.com/pathways
GDS