Inborn Errors Of Metabolism

Inborn Errors of Metabolism AMINO ACID METABOLISM

GLYCOGEN STORAGE DISEASES

OPPU

CH3CH

CMP-N-Acetyl neuraminate

HO

CHOH CHOH CH2OH

1.1.1.158

N-Ac-Neuraminate

CH2OH O

OPPU

CH2OH O

CH2OH O

O

5.1.3.7 HO OH

OPPU OH

NHAC

UDP-N-Ac-Glucosamine

5.1.3.14

HOCH 2

OH H

OH OH

C

C

C

C

H

OH H

H

COO -

OH H

OH OH

C

C

C

C

H

OH

CO

HOCH 2

OH

OH H

OH

C

C

C

H

CO

H

CO

HOCH 2

OH

H

H

OH H

OH

C

H

C

CHO

HOCH 2

OH H

H

C

H

H

H

OH

C

C

C

HOCH 2 C H

CH2OH

OH OH

L-Arabitol C

C

C

CHO

H

H

OH

C

C

CO

H

H

HOCH 2 C

C

OH

C

H

OH H

C

C

4

POCH2

CH 2OH

2.7.1.53

C OH

C

CHO

HOCH 2

C

C

H

H

H

OH

H

OH H

CH2OH HOCH 2

C

H

H

H

.9

H+

PQ

1e-

Cyt bc

2e-

2PQ

C

NADP +

CH2OP

1.1.1.44

2.2.1.1

POCH2

H

H

C

C

H

OH

C

C

POCH 2

4.1.2.-

H

H

H

POCH 2 C

C

C

CHO

POCH2

OH OH OH

NADP+

Pi

H

H

H OH

C

C

C

Pi

2.2.1.1 5.3.1

2

β

1

α

α 3

α

1:3-bis-P-Glycerate

OP O P

ADP

Hydroxymethylglutaryl CoA lyase (4.1.3.4) Ketone Synthesis Defect MIM 246450 Medium chain acyl CoA dehydrogenase (1.3.99.3) MCAD Deficiency MIM 607008

SPHINGOLIPIDOSES Acid-β-glucosidase (3.2.1.45) Gaucher Disease MIM 230800

Sphingomyelinase (3.1.4.12) Niemann-Pick Disease MIM 257200

1.1

1.3.1.35 COSCoA

CH3(CH2)14CH=CHCOS-CoA

CH3(CH2)14COS-ACP

1.3.1.9 2, 1.3.1.10

Decanoyl-ACP

.9

CH 3(CH2)2CH 2CH2COSACP

CH3(CH2)6CH=CHCOSACP

Hexanoyl-ACP

2, 3-Hexenoyl-ACP

CH3CH=CHCO.S-ACP

CH3CH2CH2COSACP

CH3CH=CHCO-S-ACP

1.3.1.9

Butanoyl-ACP

R-CH2COO

6.2.1.3

2.3.1.15

L I P I D

CH2O-CO-R

3.1.1.3

Carnitine O-Acyl-carnitine

CH2O-CO-R"

Triacylglycerol

O-Acyl-carnitine 3.1.1.28

ACYL-CoA

1.1.1.30

Acetyl-ACP

Acetoacetate 3.1.2.11

(Mitochondria)

1.3.99.3

CH3(CH2)2CH2CH2COSCoA

Hexanoyl-CoA CH3CH2CH2COSCoA

CH3(CH2)2CH=CHCOSCoA

1.3.99.3

4.2.1.17

2, 3-Hexenoyl-CoA CH3CH=CHCOSCoA

1.3.99.2

Butanoyl-CoA

4.2.1.17

2, 3-Enoyl-CoA

CH 3CH2CH 2CH2COSCoA

CH3CH2CH=CHCOSCoA

Pentanoyl-CoA

1.1.1.35

CH3(CH2)2CH(OH)CH 2COSCoA

1.1.1.35

3-OH-Hexanoyl-CoA CH3CH(OH)CH 2COSCoA

4.2.1.55

Crotonoyl-CoA

Odd C Fatty acids

3-OH-Acyl-CoA

CH3(CH2)2COCH 2COSCoA

2.3.1.1

CH3COCH 2COSCoA

6

Acetoacetyl-CoA

CH2O-CO-R

OH

CH 2O-CO-R

OH

R'-CO-OCH

O

-

O

PHOSPHATIDYL SERINE O

HO OH OH

Phosphatidyl inositol R'-CO-OCH

O + CH 2O P OCH 2CH2 NH 3

Ethanolamine-P HOCH O

- Lysolecithin

LECITHIN

Dehydrosphingosine

+ CPP-O CH2CH2N(CH 3)3

.8.3

UDP-Sugars Acyl-CoA

+ NH 3

3.5.1.23

Ceramide

CH3O

trans-Retinal

11-cis-Retinal

Light

Menaquinone

CHO

1.1.1.105

1.1.1.105

Retinol esters

2.5.1.10

(Coenzyme Q)

5.2.1.3

Phytol (C20)

O

2.3.1.76 3.1.1.21

CH2OH

trans-Retinol (Vitamin A)

O

11-cis-Retinol

Dark

HO CH 3

CH2OH

5.2.1.7

OPP CH2

CH2OH

Plastoquinone

CH3 O CH3

(Vitamin K)

H

HO

HO

CHOLESTEROL

Pregnenolone

HEMOGLOBIN

N

CH N

Fe

HC N H3 C CH2

CH

CH

CH

H3 C H2 C

N C H

CH2

COO-

HEME

CH3

N H H N

H3 C

CH2

CH2

CH2

CH2

COO-

1.3.3.4 4.99.1.1

COO-

CH N H

H N C H2

CH2

CH2 H3 C H2 C

CH3

H N

H3 C

CH2

CH2 CH2

Protoporphyrinogen

COO-

1.3.3.3

COO-

CH3

H2 C

N H

CH2

COO-

H

Lanosterol

COO-

CH2 CH3 CH 2

H2 C

HO

H

CH2 CH2

N H H N C H2

H 2C

CH2

H 2C

CH3 -

CH2 CH2

N H

N H

H N

H N

H 2C

OOC

CH2 CH2

COO-

4.1.1.37 Coproporphyrinogen

CH2

CH2 H 2 C

COO-

C H2

CH2

CH2 CH2

COO-

COO-

Uroporphyrinogen

2.5.1.61 4.2.1.75

ADP +

IV

H2 O

Pi

H+ H+ H+ β H+ H+

5-Amino-

-OOC

CH 2

H2 C

CH 2

α

AT E

4.2.1.24

N H

α

D PROTONS

ADP Pi

Porphobilinogen

ATP E NDE

RGONIC REACTIO N

H+

H+

c c-sub-u

nit

s

1.2.1.24

1.2

.1.

11

1.1.1.86

4.2.1.22

Cystathionine

N

4.2.1.49

1.8.1.3

CH3

CH3

C (OH)CH(OH)COO CH3

CH3

CHCOCOO

3.1.2.4

2.6.1.32

HOCH 2CHCOS-CoA-

N

CHCOCOO

2.6.1.32

3-Isopropyl- 1.1.1.85 Oxoleucine malate

CH3 OOCCH 2C = CHCOSCoA

HC OOCC

H C N

CH 3

CH 2 CH-COO

CH

CHCOO

4.3.1.3

2.1.1.10 2.1.1.20

2-Oxoadipate

4. 2.7.2

1 1.

(SAM)

HOCH 2 C(CH 3)2COCOO

Oxopantoate

HOCH 2 C(CH 3)2CH(OH)COO

NH4

2.7.1.33

4.1.1.36

4-P-Pantetheine

1.2.1.41

2.6.1.13

Guanidoacetate

2.1.1.2

NO

CH2 CHCOO

PROLINE 1.14.11.2 HOCH H2C

Argininosuccinate

+ NH2

P- HNCN(CH 3)CH2COO

P-Creatine 3.5.2.10

OHCCOO

4.1.3.16 OOCCH(OH)CH 2COCOO

1.5.99.8 CH2 1.5.1.2

4-Hydroxy2-oxoglutarate

1.5.1.9

Saccharopine

A M I N O A C I D S

GABA METABOLISM NEUROTRANSMITTER DEFECTS Succinic semialdehyde dehydrogenase (1.2.1.24) 4-Hydroxybutyric Aciduria MIM 271980 4-Aminobutyrate aminotransferase (2.6.1.19) GABA Transferase Deficiency MIM 137150

HN C

NH

N CH3

CO CH 2

Creatinine

Amino Acids Biosynthesis Degradation

Purines & Pyrimidines Biosynthesis Degradation

+ OOCCH(OH)CH 2CH(NH 3)COO

4-Hydroxyglutamate

CHCOO N H

1.5.1.12

HOCH HC

CH2 CHCOO

N

3-Hydroxypyrroline5-carboxylate

UREA CYCLE DEFECTS (HYPERAMMONAEMIA)

Vitamins Co-enzymes & Hormones Biosynthesis

Degradation

Photosynthesis Dark Reactions Human Metabolism is identified as far possible by black arrows

Biosynthesis

The "Backbone" of metabolism involves GLYCOLYSIS in the CYTOPLASM, the TCA CYCLE (mainly) in the Mitochondrial matrix and ATP FORMATION spanning the MITOCHONDRIAL INNER MEMBRANE

An electron flow (an electric current) generated from NADH and UQH2 drives the translocation of protons from the matrix to the intermembrane space. The retrolocation of these protons through the F0 subunits of ATP synthase to the matrix then supplies the energy needed to form ATP from ADP and phosphate

Electron Flow

Carbamoyl phosphate synthase (6.3.4.16) CPS Deficiency MIM 237300

Degradation

COMPARTMENTATION

2.6.1.23

CH2

HYDROXY PROLINE

4.3.2.1

2.7.3.2

+ CH 2CH2CH2CH2CH (NH3) COO

Pentose Phosphate Pathway

Pyrroline-5carboxylate

OOCCHCH 2COO N + H2NCNHCH 2CH 2CH2CH(NH3) COO

H2NCN(CH 3)CH2COO

Creatine

Biosynthesis Degradation

N

6.3.4.5 6.3.4.5

+ NH2

2

Lipids

NH

ARGININE + NH

Biosynthesis Degradation

CH3COCOO

CH2

1.14.13.39

COO NH CHCH 2CH2COO

LEGEND Carbohydrates

Pyruvate Glyoxylate

CHCOO

CH

2.1.3.3

3.5.3.6

+ OHCCH 2CH2CH2CH (NH3) COO

Putrescine

Glutamic semialdehyde

ORNITHINE

3.5.3.1

LYSINE

S-Adenosylmethyl thiopropylamine

H2NCH2CH2CH2CH2NH2

4.1.1.17

NH2

.7 5.1.1 0 .2 4.1.1 1.5.1.7 - 10

+ H2N(CH 2)4 CH(NH 3)COO

2-Aminoadipate 1.2.1.31 2-Aminoadipate semialdehyde

2.5.1.16

+ OHCCH 2CH 2CH(NH3) COO

+ H 2NCONHCH 2CH2CH2CH(NH3) COO

+ H2NCNHCH 2CH2CH2CH (NH3) COO

+ NH3 OOCCH-CH 2CH2CH2CHCOO + NH 3

OOCCHCH 2CH2CH 2CH-COO + NH3

N6-Trimethyllysine

Spermidine

CH2 CH2

UREA

Coenzyme A

+ + (CH3)3N(CH 2)3 CH2CH(NH 3)COO

H2N(CH 2)4NH (CH2)3NH2

6.3.5.5

H2NCONH 2

2.7.1.24 P-ADP- OCH 2 C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCH 2CH2SH

N-Succinyl- 2.6.1.17 N-Succinyl-2, 6 3.5.1.18 Diamino2-amino-6-oxodiaminopimelate pimelate pimelate

2.5.1.22

+ .11 POOCCH CH CH(NH 3 ) COO 2 2

Glutamine

2.1.4.1

Dephospho-Coenzyme A

(Decarboxylated SAM)

+ H2NOCCH 2CH2CH (NH3) COO

ATP CO2

2.7.7.3 ADP- OCH2 C(CH 3)2CH(OH)CONHCH 2CH2CO NHCH 2CH2SH

+

Spermine

Branched chain ketoacid decarboxylase (1.2.4.4) Maple Syrup Urine Disease MIM 248600

4-P-Pantothenylcysteine

CH3-SCH 2CH2CHNH 2

H2N(CH 2)3NH(CH2)4NH (CH2)3NH2

2.1.3.3

Glycine +

OOCCOCH 2CH2CH2CH-COO

Cystathionine synthetase (4.2.1.22) Homocystinuria MIM 236200

PANTOTHENATE

OOCCH 2CH2CONH OOCCH 2CH2CONH

AMINO ACID METABOLISM

1.1.1.169

Adenosyl

5 .1

Isovaleryl-CoA dehydrogenase (1.3.99.10) Isovaleric Acidaemia MIM 243500

2.5.1.6

S-Adenosyl methionine

1.2.4.4

1.14.11.8

2.6.1.39

1.2.1.32

P OCH 2C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCH 2CH 2SH

LEUCINE

+ OOCCH 2CH2CH2CH (NH3) COO

OOCCH 2CH2CH2COCOO

Glutaryl-CoA

3.5.1.2 6.3.1.2

H2NCOOP

H2NCNHCH 2COO

N

Methylmalonyl-CoA mutase (5.4.99.2) Methylmalonic Acidaemia MIM 251000

2SO 4

HOCH 2 C(CH3)2CH(OH)CO NHCH 2CH2COO

1.2.4.4

(CH3)2CHCH 2COSCoA

CH2 CH-COO

N6-Trimethyl3-OH-lysine

1.14.11.1

OOCCH 2CH 2CH2COSCoA

(GABA)

+

β

H2 C

4-Aminobutyrate

1.4.1.14

N2

H 2C OOCC

Dihydrofolate reductase (1.5.1.3) Megaloblastic Anaemia MIM 126060

Propionyl-CoA carboxylase (6.4.1.3) Propionic Acidaemia MIM 606054

COO P OCH 2C(CH 3)2CH(OH)CONHCH 2CH 2CO NHCHCH 2SH

3-MethylIsovaleryl-CoA crotonyl-CoA 1.3.99.10

OOCCH 2CH2CH2NH2

6.3.4.16

1.4.1.9

NH

4-P-Pantothenate Cysteine 6.3.2.5

+ (CH3)2CHCH 2 CH(NH 3)COO

CH3 CH3C = CHCOSCoA

FOLIC ACID

ORGANIC ACIDURIAS

P OCH 2C(CH 3)2CH(OH)CONHCH 2CH2COO

ISOLEUCINE

2.6.1.6

Adenosine deaminase (3.5.4.4) Severe Combined Immuno-Deficiency (SCID) MIM 102700

4.2.1.19

6.3.2.1

CH3CH2

CH3CH 2CHCOSCoA

+ + (CH3)3N(CH 2)3 CH2CH(NH 3)COO

Glutamyl-P

1 .7. 1.7 .1.4 1.7 .1 .6 18 1.

6.4.1.4

3-Methylglutaconyl-CoA

Carnitine

2.6.1.19

GLUTAMATE

NA TIO N

(CH3)2CHCH 2COCOO

4.2.1.33

+ (CH3)3NCH2CH(OH)CH 2COO

4.1.1.70

2.6.1.-

NO2-

(CH3)2CHCHCH(OH)COO

Hypoxanthine guanine phospho-ribosyl transferase (2.4.2.8) HGPRT Deficiency, Primary Gout, Lesch-Nyhan Syndrome MIM 308000

N

Pantoate β-Alanine 3.5.1.22

+ CHCH(NH 3)COO

CH3CH2

C H

Imidazole acetol-P

METHIONINE

4.1.2.12

CH 3

CH3 CH3CH=CHCOSCoA

CH3CH(OH)CHCOSCoA

C H

CH2COCH 2OP

+ CH 3 SCH CH CH(NH )COO 3 + 2 2

CH3 + CHCH(NH 3)COO CH3

CH3CHCO-SCoA

CH3

Xanthine oxidase (1.17.3.2) Xanthinuria MIM 278300

Glutathione

3-Hydroxy- 4.2.1.17 Methyl 1.3.99.3 Isobutyryl-CoA Isobutyryl-CoA acrylyl-CoA

C(OH)CH(OH)COO CH3CH2

C

HC

3

CH2 = CCOSCoA

PURINE & PYRIMIDINE METABOLISM

CH2SH + OOCCH(NH 3)CH2CH2CONHCHCONHCH 2COO

2-3-Dihydroxy 4.2.1.9 2-Oxo- 1.4.1.8 VALINE isovalerate isovalerate 1.2.4.4 CH CH CH 3

Glycine dehydrogenase (1.4.4.2) Non Ketotic Hyperglycinaemia (NKH) MIM 238300

CH

C

Glycine

.3

Bile Acids HCHO

C

Adenosyl

6.3.2

2.3.1.46

P OCH 2 C

+ CH 3 SCH CH CH(NH )COO 2 2 3

2.1.1.13 2.1.1.14

+ SCH 2CH2CH(NH 3)COO

Taurine

H

Imidazole glycerol-P

2.7.7.4

(APS)

γ-Glutamylcysteine

HO3SCH 2CH2NH2

RPPP

H

NH CH

Adenylylsulphate

CH2SH + OOCCH(NH 3)CH2CH2CONHCHCOO

.2

N

CYTIDINEtriphosphate

P Y R I M I D I N E S

Urocanate

S-Adenosyl homocysteine

6.3.2

29

CDP

CH 2.7.4.6 CH

OH OH HN

C

CH

Adenosyl

Glutamate

Tyrosinase (1.14.18.1) Tyrosine Negative Albinism MIM 203100

(CTP)

2.6.1.9

CHCH 2CH2COO

Homocysteine

4.4.1.8

C

(UTP)

NH CH

+ HSCH 2CH2CH(NH 3)COO

6.3.4.2

N

CH2CH(NH 3)CH2OP

NH CH

2.7.1.25

4.2.1.22

3

+ OHCCH 2CH (NH3)COO

+ OOCCH 2CH 2CH (NH3) COO

H+ H+ H+ H+

Y

C

Imidazolone propionate

Phosphoadenylylsulphate

CH 3

4.2.1.18

2-OXO ACID

F0 H+

3.5.2.7

d-CDP

NH 2

CH CH N RPPP

Histidinol-P

3.1.3.15

N

Aspartyl 4.2.1.52 2, 3-Dihydro-1.3.1.26 PiperideineSemialdehyde dipicolinate 2, 6-dicarboxylate Succinic semialdehyde OH

+ H2NCH2CH2CH2CH (NH3) COO

H+

X

H2 N

AαT

ε

N

OC

CH3

2-Isopropylmalate

OOCCH 2CH2CHO

F1

γ δ

COOlevulinate

H2 C

CH2

(C30)

CH2 H2NCH2C=O

CH2

CH2

1/ O 2 2

Squalene

COOCH2

COOCOO-

CH2 -OOC

5.4.99.7 1.14.99.7

NH CH

+ HOCH 2CH2CH(NH 3)COO

CITRULLINE

P +1 P i

N

CH N RP

NH2 C CH CH N DP

2.7.4.14

N OC

NH C CH C HC N N RP

CH2

HC

CH 2CH(NH 3)CH2OH

COOH

1.1.1.3

Carbamoyl-P 3

β

CO

N

1.17.4.1

URIDINEtriphosphate

CONH 2

+ OOCCH2CH2COOCH2CH2CH(NH 3)COO

1.1.1.3

(CH3)2CHC(OH)CH 2COO

4.2.1.18

ATP γ

C

CHCH 2CH2COO

Hypotaurine

COOH

6.4.1.3

1.3.99.7

1.7.1.1 1.7.99.4

F1 β

HN OC

2-Methylaceto-1.1.1.35 2-Methyl-3-4.2.1.17Tiglyl-CoA 2 Methylbutyryl1.3.99.3 acetyl-CoA CoA hydroxybutyryl-CoA

Aspartyl-P

NO3-

or ting ATP nsp 3.6.1.34 synt h tra +oscp

ATP

HC

NH CH

.1.

COO

Asparagine

MI

2

1.9.3.1

Zymosterol

COO-

CH2 CH3

H C

2H+

C

d-CMP

Cytosine

OH OH

Histidinol

1.1.1.23

O-Phospho- 2.7.1.39Homoserine homoserine

.31 1.1.1

R-CO-COO

F6

H

HO

Desmosterol

CHLOROPHYLL

CH2

H3 C

H

CH2CH(NH 3)CHO

4.1

3-Hydroxyisobutyrate

.4

1.4.1.2

2e-

P OCH 2 C

P U R I N E S

N C C

OC

O C

P-Ribulosylformimino P-Ribosylformimino 5-aminoimidazole- 5.3.1.16 5-aminoimidazolecarboxamide-R P+ carboxamide-R P + +

Cysteate

CH3 HOCH 2CHCOO

+ R-CH(NH3) COO

2H+

H

3.3.1.1

2-Acetolactate

UQ

CuB Heme a3

.4

2.4.2.9

H

O C

HN H2 N C

NH 2 C CH N CH OC NH

RP

+ HO3SCH 2CH(NH 3)COO

CH3COC(OH)CH 3

2-AMINO ACID

δ

2H+

Progesterone

_ UQ.

2.5.1.21

(Vitamin E)

C

+ CH2CH(NH 3)COO + SCH 2CH2CH(NH 3)COO

2.5.1.48

+ POCH 2CH2CH(NH 3)COO

+ H2NOCCH 2CH (NH3 COO

5-Aminolevulinate

1eCyt.bH

1.10.2.2

Heme a

CYSTEINE

+ P OOCCH 2CH(NH3)COO

1.2.1.16

Glycine

2H+

CuA CuA

(C15)

STEROIDS

CH

Cyt.c

Farnesyl-PP

CH 3

α-Tocopherol

Phylloquinone

SUCCINATE

1e-

Cyt.c1 2UQ

(C10)

(C20)

n

CHO

1.2.1.36

CH3C= CHCH 2 CH2C= CHCH 2OPP CH2OPP

Ubiquinone

C

OH OH O

1.8.99.2

CH3CH2COCOO

5.4.99.2

SUCCINYL-CoA

UQH2

2e- 2UQ_ . III 2eFe-S Cyt.bL

Geranyl-PP

O

-OOCCH2CH2CO.SCoA

2H+

1.10.2.2

CH3

Geranyl-geranyl-PP

CH3

C

4.2.1.9 2-Aceto-22-Oxo-3-methyl 2:3-Di-OHhydroxy- 1.1.1.86 3-methylvalerate valerate butyrate

6.3.5.4

A

Opsin

Retinoate

O CH3O

2.5.1.29

C

NH2 N OC C NH CH C HC N N

NH CH

4.4.1.1

COO

2.7.2

4.3.1.1

2.3.1.37

2UQH2

4H+

ASPARTATE

1.2.4.2 2.3.1.61

UQH2

2.5.1.1 CH 3

H

Succinylhomoserine

Methylmalonyl-CoA

4.1.1.71

NS

Rhodopsin

(C5)

H

HO2SCH 2CH2NH2

CH3

TRA

1.14.99.36

Isopentenyl-PP

(C5)

2.5.1.32

FAD

CH HN OC N CH RP

CH N RP

H

N

CH CH N DP 3.5.4.12

3.5.4.1

CH

N C C

C A T E C H O L A M I N E S

Phenylalanine hydroxylase (1.14.16.1) Phenylketonuria (PKU) MIM 261600

GUANOSINE-P

d-UMP

O C

C-COO RP

N

N

O C

(PAPS)

4.3.1.19

2.1.3.1 4.1.1.41 5.1.99.1

6.2.1.4 -OOCCH2CH2COO-

II

CH3C-CH2CH2OPP

HSO -

1.8.99.1

Cysteine sulphinate

CH 3CH2COSCoA

1.1.1.41

CH2

Dimethylallyl-PP

(C40)

hv

Cyt.b

UQ

OC

Histidinal

CH3

GLUTARATE

+

N H

6.3.4.1 6.3.5.2

2.4.2 .1

2.7.4.8

HN OC

THYMIDINE-P

CH CH

O C

HN

1.1.1.205 OC

Propanoyl-CoA

2-OXO-

1.3.5.1

O C

A C I D S

Fumarylacetoacetase (3.7.1.2) Tyrosinaemia Type I MIM 276700

(GMP)

C-CH3 CH 2.1.1.45 N DP

2.4.2

N RP

(IMP)

(XMP)

GDP

C

N

XANTHOSINE-P

Guanine

.1

C

2.7 .4.9 HN OC

Uracil

HN

H

C

HC

1.1.1.23

CH3COCHCOSCoA

CH(OH)COOCHCOO2COO

-OOCCOCH CH COO2 2

FADH2

1.3.1.2

H

3.5.4.19

N

+ 47 HSCH CH(NH 2 3)COO

4.2.3.1

HC

INOSINE-P

.3

O

1.13.11.20

2.3.3.1 CH2COOC(OH)COOCH2COO-

OOCCH=CHCOO-

RP

3.5.4

1.17.4 .1

O C

HN OC

CH C-COO NH

P OCH 2

.1.

.16

4.2.1.3

CH

3.1.22.1

2.7.4.6

2.4.2.4

Thymine

O C

HN OC

NH CH

HS

1.8.1.6

8

N

C

C N

6.3.4.4

7.4

Formimino glutamate

CYSTINE

.3.1

Plant Pigments

Adenosine Aspartate

NH N C C CH C NH RP N

d-GDP

TDP

O C

HN

2.5

2.3.1

FUMARATE

Fe-S

RP

1.1

7.6

C CH3 CH NH

OOC

OOC-CH-COSCoA

or 2H+ -

NHCOR

CH3

Phytoene

1.6. 5.3

H 2N

4.3.1.3

CH2CH2NH2

Methylmalonyl semialdehyde

4.1.3.1

MALATE 4H+ 2H+ 4.2.1.2

2.4.2.15

2.7 .

O C

HISTAMINE

4.1

CH3CH(OH)CH2CO.SCoA

UQH2

CH3C = CHCH 2OPP

CH2

Oxobutyrate

ISOCITRATE

+

4H+

4.1.1.33

Cerebroside

3.2.1.45

52

O C

H 2N

Adenylosuccinate

4.6

Dihydrouracil

NH

CITRATE

2H

2Fe -S (5 Clusters)

Psychosine

3.2.1.46 1.3.99.7

.7.6

CH-COO NH

HISTIDINE

+ S-CH 2CH(NH 3)COO + S-CH 2CH(NH 3)COO

CH3 OHCCHCOO

Glyoxylate Cycle

1.1.1.37

Diphosphomevalonate

Acyl-CoA

Malonic semialdehyde

1.

2.6.1.1

FMNH2

CH3C(OH)CH 2CH2OPP

CH3(CH2)12CH=CHCH(OH)CHCH 2O- Galactose

N

.18

4.1.1.32

-OOCCHO

CH2COO

CH3(CH2)12CH=CHCH(OH)CHCH 2O- Galactose

CH3(CH2)12CH=CHCH(OH)CHCH 2OH

To Brain - VISION

COO-

2.7.1.32

UDP-Galactose

NHCOR

CHOLINE

C C H

4.1.3

OHCCH 2COO-

1.2.1.18

2.3.3.9

2.7.1.36 2.7.4.2

+ HOCH 2CH2N(CH 3)3

+ OCH 2CH2N(CH 3)3

Choline-P

2.4.1.23

Lycopene (C40) β-CAROTENE (C40) Metarhodopsin

2.3.1.6

+ NH 3

4-Sphingenin

2.4.1.62

3.1.4.12

3.1

3.1.4.12

2.7

1.1.1.102

-

2.7.7.15

CDP-choline

CH3(CH2)12CH=CHCH(OH)CHCH 2OH

Sphingosine

CH COO

2 Acetylcholine CH C(OH)CH 3 2 CH2OH .4.2 Mevalonate

Glycerophosphocholine 3.1.4.4

2.7.8.2

CH3(CH2)14CH(OH)CHCH 2OH

1.1.1.32

3.1.4.3

+ NH 3

CH 3(CH2)14COCHCH 2OH

Mevaldate

CH3COCH 2CH2N(CH 3)3

+ CH2OPO CH2CH 2N(CH 3) O

3.1.1.5

CH3C(OH)CH 2CHO

Ethanolamine

2.

2.3.3.8

I

+ HOCH 2CH 2NH 3

2.7.1.82

4.

OXALOACETATE

I

FMN

CH2COO

1.4.3.8

Carnosine

THREONINE

GTP

NAD+

4.3.2.2

d-CTP GTP TTP 2.7.

CH2 CH2 OC NH

3.5.2.2

CH3COC(OH)CH 2CH3

8

1.1.1.34

Oxalate

LACTATE

-OOCCOCH COO2

4.2.1.1

N

6.3.2.6

d-GTP

1.3.1.2

+ CH2CH(NH 3)COO

C

HC

+ CH3CH(OH)CH(NH 3)COO

2.6.1.18

2.6.1.44

NADH+H+

CH3C(OH)CH 2COSCoA

HOOC-COOH

HOCH 2CHO

NHCOCH 2CH2NH2

1.1.1.39

β-OH-β-Methylglutaryl-CoA

Glycol aldehyde

CH2OH

HOCH O

3

2.7.8.5

O

+ POCH2CH2 NH3

2.7.7.14

CH2O-CO-R

Choline plasmalogen 1.3.1.35 Serine +NH

1.2.1.21

OPhosphatidylglycerol

+ CH2OPO CH2CH2N(CH 3)3 O CH2OCH=CHR CH 2 O-CO-R R-CO-OCH O 3.1.1.32 O R'-CO-OCH + + CH2OPO CH2CH2N(CH 3)3 CH2OPOCH2CH2N(CH 3)3 O O

2.3.1.50

R'-CO-OCH

-

CDP-Ethanolamine

2.1.1.17 2.1.1.71

Glycolate

CH2O-PO CH 2CHOHCH 2OH

+ CPP- OCH 2CH2 NH3

2.7.8.1

1.2.3.5

CH

N HC

.7.7

HN OC

P-Ribosyl-AMP

4.1.1.29

4.1.1.12

ACETYL-CoA

4.1.3.4

CH2COO

HOCH 2COO

3.6.1.31

4.1.2.5

CH3CH(OH)COO

HOH GDP CO2

1.2.4.1 2.3.1.12 3.1.3.43

NAD+

2.3.3.10

4.1.3.5

1.1.1.79

O

CH2O-CO-R

O HCO-CO-R

Cardiolipin

OHCCOO

CDP-diacyl glycerol

Inositol

2.7.8.11

CH2 O-POCH 2CH(OH)CH 2 O-P-OCH 2 O O

OPhosphatidyl ethanolamine CEPHALIN

.6

CH3COSCoA

3-Oxopentanoyl-CoA

Glyoxylate

2.7.7.41

O

CH2O POCMP

Serine

2.7.8.8

CH 2O-CO-R’

CH2O-CO-R R'-CO-OCH O

4.1.1.65

CH 2O-CO-R

CH 2O-CO-R R'-CO-OCH

COO + CH 2O PO CH 2CHNH 3

1.3.99.7

CH2O-PO

2.2.1

NADH+H+

2.6.1.4

R'-CO-OCH O

ALANINE

.27

6.4.1.1

2.3.1.9

CH3CH2COCH 2COSCoA

1.1.1.35

3-OH-Pentanoyl-CoA

.16

Tannins

LIGNIN

Dihydro Orotate Orotidine-P Uridine-P UDP 4.1.1.23 (UMP) 2.7.4.4 2.4.2.10 2.7.4.6 orotate 1.3.1.14

C CH 2CHCOO NH C H

HO2SCH 2COCOO

+ CH3CH(NH3)COO

2.6.1.2

CH3COCOO-

NAD ATP CO2

2.3.1

3-Oxohexanoyl-CoA

1.1.1.157

3-OH-Butanoyl-CoA CH3CH2CH(OH)CH 2COSCoA

Pentenoyl-CoA

3-Oxoacyl-CoA

O C

3-Sulphinyl pyruvate

1.1 .1

2.3.1.38

CH3(CH2)n COCH 2COSCoA

2.7

+ HO 2SCH 2CH(NH 3)COO

HSO3-

1.4.1.1

1.2.4.1 2.3.1.12 1.8.1.4

4.1.1.9

CH 3CO-S-ACP

CH3COCH 2COO

CH3(CH n CH(OH)CH 2COSCoA

C

4.4.1.15

PYRUVATE CH3(CH2)n CH=CHCOSCoA

C

+ CH2CO-OCH2CH(NH 3)COO

HS

e as

GDS

CH2O P

2.7.7.6

NH2 N + C C N CH C HC N N RP(PP)

Acetylserine

4.4.1.15

PYRUVATE

HOOCCH 2CO-SCoA

Malonyl-Co-A

CH3(CH2)n CH2CH2COSCoA

© 2006 International Union of Biochemistry and Molecular Biology

www.iubmb.org

4.1.1.4

Phosphatidate 2.7.1.107

3.1.3.4

CH3CH(OH)CH 2COO

Acetone 3-OH-Butyrate

R’-CO-OCH

C

1 .1. 4.1

ATP

2 .1. 3.7

KETONE BODIES CH3COCH 3

2.7.8.5

P OCH2 C

2.7.1.40

2.3.1.39

2.3.1.51

CH2OH

Diacyl 2.3.1.20 glycerol

FAT

CH2O P

0

CH3CHO

ADP HOOCCH 2CO-S-ACP

Malonyl-ACP

2.3.1.41

3-P-Glycerol

CH2O-CO-R

CH2O-CO-R R’-CO-OCH

R’-CO-OCH

2.7.1.30

Glycerol

.1.3

2.6.1.44

CH3COCH 2COSACP

Acetoacetyl-ACP

1.1.1.8

HOCH

HOCH CH2OH

FATTY ACID

3.1.2.20

1.1.1.100

CH2OH

2.3

2.1.3.2

Acetaldehyde

2.3.1.41

3-OH-Butanoyl-ACP CH2OH

CH2=C(OP ) COO

3-Oxo-Hexanoyl-ACP

CH3CH(OH)CH 2COS-ACP

4.2.1.58

Crotonoyl-ACP

H

N

1.1.1.1

P-enolpyruvate

AD

Protoporphyrinogen oxidase (1.3.3.4) Variegate Porphyria MIM 176200

3-OH-Hexanoyl-ACP

C

H 2N

RP

2.7.7.7

CH-CH3 CH 2 NH

Carbamoyl β-alanine

4.1.1.22

ETHANOL Glycine

CH3(CH2)2COCH 2COSACP

1.1.1.100

OOC-CH-CH 2COO HNCO C N

Fumarate

CH3CH 2OH

2.3.1.41 CH3(CH2)2CH(OH)CH 2COSACP

4.2.1.59

H

HC

3-Oxo-Decanoyl-ACP

4

CH3(CH2)2CH=CHCO-S-ACP

THYROXINE

CH

2.7.7.7

Dihydro thymine

3.5.2.2

3.5.2.3

P-Ribosyl-ATP

1.2.1.4

3-Oxoacyl-ACP

C

Uroporphyrinogen decarboxylase (4.1.1.37) Porphyria Cutanea Tarda MIM 176100

0 .2.1.6

2, 3-Decenoyl-ACP

1.3.1.9

3-OH-Decanoyl-ACP

I OH

(AMP)

H2NCONHCH 2CH 2COO

OH OH O

HOCH2CH(O P)COO

2-P-Glycerate

CH 3(CH2)6COCH 2COSACP

1.1.1.100

OH

I

NH

RP(P)

O C

HN OC

HN OC

H

N

4.2.1.11

0

13

H

2.4.2.17

2.3.1.41

CH3(CH2)6CH(OH)CH 2COSACP

Coumarate

O

ADENOSINE-P

1.

3.5.1.6

ACETATE

CH 3(CH2)n COCH 2COSACP

N

HN

CH 3COO

Mitochondrial

1.1.1.100

3-OH-Acyl-ACP

4.2.1.6

3, 4-Decenoyl-ACP

1.3.1

CH 3(CH2)n CH(OH)CH 2COSACP

4.2.1.60 4.2.1.61

3-Enoyl-ACP

CH3(CH2)5CH=CHCH 2COSACP

CH3(CH2)6CH2CH 2COSACP

2.3.1.7

P O R P H Y R I N S

P OCH2COCOO

P-Hydroxypyruvate

Glycerate

TRA N S L O

Porphobilinogen deaminase (2.5.1.61) Acute Intermittent Porphyria MIM 176000

Chain elongation

CH3(CH2)n CH=CHCOS-CoA

ACYL-ACP

SPHINGOMYELIN

PORPHYRIAS

Oxostearoyl-CoA

2.6.1.22

HOCH2CH(OH) COO

5.4.2.1

1.

Carbamoyl aspartate

HC

POCH2CH(O P) COO

2, 3-Diphosphoglycerate

Endoplasmic Reticulum

(Cytosol)

S T E R O I D S

OH

Thromboxane B2

ADP

RNA

H

2.6.1.52

2.7.1.31

CH3(CH2)14COCH 2COS-CoA

OH-Stearoyl-CoA

CH 3(CH2)14COSCoA

NHAcyl O 3.2.1.52 + CH3(CH2)12CH=CHCH(OH)CHCH 2O PO CH2CH2N(CH 3)3 O

Cytochrome c oxidase (1.9.3.1) Complex IV MIM 220110

5.3.99.5

COS CH3(CH2)14CH(OH)CH 2COS-CoA

Palmitoyl-CoA

CH3(CH2)n+2COS-CoA

I S O P R E N O I D S

OH

HO

O

HO

1.14.13.11 CH=CHCOO

1.1.1.29

1.1.1.95

3-P-Glycerate

COO

Prostaglandin PGE 2

Dehydrostearoyl-CoA

Palmitoyl-ACP

ACYL-CoA

P H O S P H O L I P I D S

9.1

POCH2CHOH COO

OH

COO

.3

Palmitoleoyl-ACP

Oleoyl-CoA

Gangliosides

RESPIRATORY CHAIN DEFECTS

4.9

CO-S-ACP

Leukotriene B4

O

.99

+

Phosphoserine

CH3(CH2)14COCH 2COS-CoA

B I O S Y N T H E S I S

D E G R A D A T I O N

5.3

2.7.7.6

β-Ureido isobutyrate

-OOC NH2 CH2 OC CH-COO N

P OCH2CH(NH3)COO

OH

Tyramine

OOC-CH-CH 2COO

2.7

H2NCONHCH 2CHCOO

H2NCH 2CH2COO

3.1.3.3

Hydroxypyruvate

ATP

1.6.5.3

Hexosaminidase A (3.2.1.52) Tay Sachs Disease MIM 272800

Arachidonate 1.13.11.34

4.1.1.11

N

DNA

.7

CH3

2.

Cinnamate Menaquinone

I

CH

d-ATP

β-Alanine

HOCH2COCOO

ADP

COO

4.2.1.22

SERINE

2.6.1.51 1.4.1.7

POCH 2CHOHCOO P

H

LIPID METABOLISM

γ-Linolenate

COSCoA

HOCH2CH(NH3)COO

CH=CHCOO

O

N

4.2.1.51

A M I N O

Phenylpyruvate

2.4.2.1

2.7.7

3.5.1.6

I

O

1.17.4.1

2.7.4.6

3-Aminoisobutyrate

+

C C

2.7.4.3 2.7.4.4

OH OH

d-ADP

CH3 H2NCH 2 CHCOO

CHOLINE

NADH

O

N

2

C

N HC

0 4.2.1.2

4.1.2.5

+ HOCH2CH2N (CH3) 3

N

2.7.4.6

ATP

4.6.1.1

ATP

FOLIC ACID C1 POOL

1.4.4.2

Betaine aldehyde

OH OH

HO

OH

1.1.99.1

COO

Stearoyl-CoA

+

Pi NAD+

RP

2.6.1.5 4.3.1 .5

CH2CH2NH2

5

Ubiquinone

N C C

H2 N

O HC O O N -O P~O P~O P O CH 2 O O O O

CH

N

N CH2 O

O

1.5.1.3 4H-folate

1.2.1.8

1.2.1.12

P-Ribosyl-PP

HO

3.5.2.5

N

Cyclic AMP 2H-folate

1.4.4.2

OHCCH 2N(CH3)3

2.7.2.3

PEROXISOMAL DEFECTS

1.14.19.1

1.5.99.2

Betaine

Pi

CH2OP O

2.7.6.1

NH2

O

OOCCH 2N(CH3)2

2.4.2.14 6.3.4.7

1.2.1.13

ATP

COO

L I P I D

Sarcosine

Glyoxylate

NH

HC

P

Dimethylglycine

β

εε

β2

O

+

Glyceraldehyde

CO2

N O

1 2. OOCCH 2NHCH3

C N H H

Allantoate

2.1.1.5

CHLOROPLAST OUTER MEMBRANE

COO

NH2

3-P-Glyceraldehyde

.1

3.6.3.14

1.14.19.3

GLYCINE

CH2OP O

N

CH2COCOO

1.3.1.13 .1.2

O

OOC

OH

Prephenate

A R O M A T I C

1.3.1.13

4.1

HN

CH 2COCOO

+

+ CH2CH(NH3) COO

CH

5.4.99.5

2-Amino muconate

5-Amino-4-imidazole 4.3.2.2 5-Aminoimidazole O C C N (N-succinylcarboxamide)-R P carboxamide-R P H2 N CH HCO C N RP O 2.1.2.3 2.4.2.8 NH NH O O H2N OC NH C N N C C C HN FormylamidoCO C CO HN C HN 3.1.3 CH Inosine CH C OC C .5 OC 3.2.2.2 imidazoleC N H NH OC C HC NH N NH NH NH N H 1.17.3.2 H P carboxamide-R 1.1.3.22 2.4.2.1 1.7.3.3 Allantoin URATE Xanthine Hypoxanthine 3.5.4.10 O N NH2 C N C HN 3.5.4.4 N CH CH NH

NH2 CO

COO

OC

CH2(NH3)COOH

4 .1. 2.6 .10 0 .1 .2 1.4 .1

4.1.2.13

.1 5.3.1 2.7.1.28

(Glycerone-P)

Fixation

ATP

H+

STROMA

Alanine-glyoxylate aminotransferase (2.6.1.44) Hyperoxaluria Type 1 MIM 259900

CO CH2OP

RP

OOCCH2N(CH3)3

Dihydroxyacetone-P

Ribulose-1,5-bis-P

ATP

THYLAKOID MEMBRANE

Linoleate

Urea

OH OH OH H

HOCH2COCH2OP

H 2N

+

P-Ribosyl amine

C CO CH2OP

H2NCONH 2

Sedoheptulose-PP

ADP

H+

THYLAKOID LUMEN

C

Fructose1:6-bis-P

2.2.1.2

D-Xylulose-5-P

D-Ribose-5-P

ADP

γ

H+

C

NH

OH

Chorismate

PHENYLALANINE

MELANIN

N

HC H 2N C

OC-COO

NH 2

OOC OOC

OOC

4.1.3.27

1.14.16.1

1.14.18.1

1.14.12.1

NH2

Anthranilate

CH2CH(NH3) COO

TYROSINE

Plastoquinone

CHO

RP

3.5.3.4

OH OH H CO CH 2OH

OH H

flo

α

H+

H+

C

O

Dopaquinone

OCH 3

+

CH2CH(NH3) COO

OH

1.2.1.32

COO

2.4.2.18

CH2

Shikimate-5 4.2.3.5 enolpyruvate 3-P

6.3.3.1 5-Amino 4.1.1.21 5-Amino-4-imidazole Formyl Formyl 6.3.5.3 carboxylate-R P imidazole-R P glycinamide-R P glycinamidine-R P

6.3.4.13

OH OH

α α 1

H+ H+ H+ H+ H+ H+ H+ H+ H+ H+ Protons from Water H+ + H+ H+ + H H H+ H+ H+ H+ H+

HO

NH

O

N-(5-P-Ribosyl) anthranilate

+

H2 C CH-COO + NH3

O

(Vitamin E)

NH

2.1.2.2

Glycinamideribosyl-P

ADP

H

α-Tocopherol

CHOHCH 2OH

H 2C HN C

CH CH2OP

C

O-C-COO

Dopa

1.14.18.1

CHO

OC

2.7.1.11

H

6

NH

C

COO

OH

2.5.1.19

OH

4.1.1.28

OCH NH2 COO

OH OH

4.1.1.48

P O

2.6.1.5

OH

Dopamine

4-OH-3-Methoxyphenylglycol H 2C

NH

CH2CH(NH3) COO-

OH

OH

NHCOCH 2NH2

OH OH

OH OH

NADPH+H+

H+

CH2OP O

OH

CH2CH2NH2

1.14.17.1

OH

OH

Hydroxyphenyl pyruvate 1.3.1.13

1. .1.

(Normetadrenaline)

CO CH2OH

3.1.3.11

Erythrose-4-P

3.4

(MELATONIN)

COO

Shikimate-3-P PEP

OH

Normetepinephrine

. 1.4

2.7.1.71

Shikimate

1.13.11.27

(Noradrenaline)

4-OH-3-MethoxyD-mandelate

ATP

5.1.3.1

OCH 3

OH

POCH 2CHOHCHO

H+ H+

H+ H+

C

C CHO

POCH 2 C

POCH 2

OH

OH

PO

CH2COCOO

2

OCH 3 OH

CH(OH)COO

2.2.1.1

H+

H+ H+

HO

C

H

H

D-Ribulose-5-P

1.1 5

A1

H+

H

CO CH2OH

5.3.1.6

CH2 OP O

Fructose-6-P

OH OH

CHO

3.7.1.2

OH OH H

NADPH

H+

PC PC

H

POCH2 C

1.1.1.25

OH

Norepinephrine

CHOHCH 2NH2

H

OH

Quinolinate

COO

COO

CH2COO

OH

2.1.1.28

Epinephrine

5.3.1.9

5.3.1.8

OH 6-P-Gluconate NADPH

2.7 .

H+

c

O2

C COO -

C

OH

CHOHCH 2NH2

OH

OH

OH OH OH

ren t)

H+

H+

C

HO

OH

(Adrenaline)

HO OH

COO

N-Acetyl-5-O-methyl-serotonin

CH2

Dehydroshikimate

OH

OH

ADP

Glucose-6-P

4.2.1.10

O CH2COO

CHOHCH 2NHCH 3

2.7.1.2 2.7.1.1

1.1.1.49

O

2.1.1.4

COO

N

4.1.1.45 3-Hydroxy 1.13.11.6 2-Amino-3-carboxy 2-Aminomuconateanthranilate muconate semialdehyde 6-semialdehyde COO H H Catechol

3.7.1.3

1-(o-Carboxy phenylamino) 1-deoxyribulose-5-P

COO

OH

Fumaryl 5.2.1.2 Maleyl 1.13.11.5 Homogentisate acetoacetate acetoacetate

ATP

3.1.3.9

NADP +

5.1.3.1

D-Ribose

OH

HO OH

OH

H

COO

Dehydroquinate

O

O CH2COO

COO OH

O

4.2.3.4

O

GLUCOSE

P-Glucono lactone

7

OH

H

-OOC

5.4.2.2

HO

N

Indole-3-glycerol-P

COO

CH 2CH2NHCOCH 3 NH

OCH NH2 COO

COO HOC-CH(OH)CH(OH)CH 2OP CH N

C-CH(OH)CH(OH)CH 2OP CH

2.4.2.19

CH3O

NH2

OH

Quinolinatenucleotide

2.4.2.19

COO

NH2

OH

Kynurenine 1.14.13.9 3-Hydroxy kynurenine

4.2.1.20

TRYPTOPHAN

HOCH HCOH C

CH2OH O

O OH

.1.1

3.1

OH H

2.7.1.17

P700

PC

Fe-S 2e- Cyt.f

Translocated protons H+

CO

5.1.3.4

Chl.A0

4H+

H 2O

H

C

CH2OH

H

2 2

2PQH2

2e-

C

H

8

.

2PQ

Mn

C

C

Fe-S

2e-

_ 2e-

P680 Chl.a

C

CH2OH

CO

*2e

Cyt bf

Pheophytin

H

OH

Ferredoxin

2e-

1e-

PQH2

QA

H

H

8

.

_ PQ

PQH2

QB

C

Glucose-1-P

NH

4.1.1.28

3-Deoxy-D-arabinoheptulosonate-7-P

NH2

+ CH2CH(NH 3)COO

OC P OCH 2 CH2

OPPU

+ COCH2CH(NH 3)COO

+ COO N RP

N

Nicotinatenucleotide

CH2CH2NHCOCH 3

5-Hydroxytryptamine 2.3.1.5 N-Acetyl-serotonin

.11 2.4.2

Ribose- P

2.7.7.18

NH

+ CO CH2CH(NH 3)COO

3.5.1.9

Formylkynurenine

HO

CH 2CH2NH 2 NH

1.13.11.11

COO

UDP-Galactose

2.6.1.16

HO OH

w

2H+

2e-

C

HOCH 2 C

PHOTO- H+ otophosphoryla SYSTEM lic n-cyc electr tion l 2H+ yclic Ph No (electric cur on C

PQ

HOCH 2 C

Ribitol

CO CH OH 2

HOCH 2 C C OH H

2.7 .1. 4

H+

H+

H+

OH

OH OH OH

D-Xylulose

PHOTOSYSTEM II

H

OH

POCH2 C

OH

2.7.1.3

H

NH

Tryptamine

OH

3.2.1.48

CH2OP O

C CH2OH

Sorbitol

H

CH2CH 2NH2

CH 2OH O

OP

1 1.1.1.2

CO

H

CHO

OH OH

1.1.1

C

Fructose-1-P

L-Ribulose 2.7.1.16 L-Ribulose-5-P

L-Lyxose

OH H

C

OH OH H

C

3.2.1.26

OH OH H

D-Xylose

CO CH2OH

H

OH OH H

O

2.7.1.47

CO

HOCH 2 C C OH H

2.7.1.47

H

POCH2

C

OH OH

OH OH

CO

CO CH 2OH

L-Xylulose-5-P

CH 2OH

Xylitol

.1.

H

CO

OH H

OH H

1.1.1.10

5.3

L-Arabinose H

HOCH 2

C

OH

HO

Glucosamine-6-P

SUCROSE

HOCH 2 C

1.10.2.1 1.10.3.3

2.4.1.22

OH

1.1.1.14

CO

NH

O

O

Desamino-NAD

COO

COO

NICOTINATE

+ N

(SEROTONIN)

+ CO CH2CH(NH 3)COO CHO

NH

4.1.99.1

Indolepyruvate OP

OH

NH2

5.5.1.4

Dehydroascorbate

OH OH

L-Xylulose

OH OH H

HOCH 2 C

CHO

C

H

OH

2, 3-Dioxogulonate

OH H

C

OH H

H

C

HOCH2

CH2OH

CO

Fructose

O

OH H

CO COO -

CO

C

D-Arabinose 5.3.1.3 D-Ribulose

4.1.1.34

OH H

C

OH OH H

L-Xylose HOCH 2 C

HOCH 2 C

1.1.1.130

3-Dehydrogulonate HOCH 2 C

OH H

C COO-

CO

C

ASCORBATE

a

Galactose-1-phosphate uridyl transferase (2.7.7.12) Classical Galactosaemia MIM 606999

OH

C

OH OH

C

C

CH 2COCOO

HO 5.1.3.2 2.7.7.10 2.7.7.12 OH 2.7.7.12

HO OH

OH

.4

5.3.1.8

Inositol-P

OH H H

O

OH

C

CH 2OH O

HO OH

2.3.1

OH OH H

OH

3.1.3.25

Inositol

C

HOCH 2

HO OH OH

1.13.99.1

H

2.7.7.9

CH 2OP O

NHCOCH 3

H

2.7.7.27

2.4.1.13

OPPU HO

2.7.7.34

2.4.1.9

N-Ac-Glucosamine-6-P

OH OP

HO OH

OH OH

Glucuronate

H

O

OH H

HOCH 2 C

HOCH 2

P H O T O S Y N T H E S I S

Mannose-6-P OH

2

HO

1.14.16.4

4.1.1.43

CH2OH O

UDP-Glucose Galactose-P

2.7.7.24

HO OH HO OH

HO OH

NHCOCH 3 5.4.2.3

OH

HO OH

1.1.1.19

OP

N-Ac-Glucosamine-1-P

O

1.1.1.45

Galactokinase (2.7.1.6) Galactose Kinase Deficiency MIM 230200

5.4.2.8

2.7.7.23 OH

1.1.1.2

2.7.1.6 2.7.1.6

HO OH

TDP-Glucose

CH 2OP O

CH2OP O

HO OH

Gulonolactone 1.1.3.8 2-Oxogulonolactone

Lactase (3.2.1.23) (3.2.1.108) Lactose Intolerance MIM 223000

Mannose-1-P

CH2OH O

COO

H

Sucrase-isomaltase (3.2.1.10) Sucrose-Isomaltose Malabsorption MIM 609845

2.7.1.7

HO OH HO O P

UDP-Glucuronate

OPPU

4.2.1.46

3.2.1.108

Ribose - O - P - O - P - O -Adenosine

6.3.5.1 6.3.1.5 HO

4.1.1.28

5-Hydroxytryptophan

Indole

Indoleacetaldehyde

GALACTOSE

CH2OH O OH

GDP-Glucose

OH OH

NH

NH

NH

3.2.1.23

OH

3.2.1.10

ADPGlucose

TDP-4-Oxo6-deoxyglucose

MANNOSE

2.7.7.13

5.1.3.6

2.5.1.57

HO OH

N-Ac-Mannosamine

3.1.1.17 HOCH 2

MONO- & DI-SACCHARIDES

UDPGalacturonate

2.4.1.11 HO 2.4.1.21

2.4.1.25 OPPT

OH

HO OH HO OH

CH2OH O

2.7.1.60

ACNH HO OH OH

Gulonate

P E N T O S E S

OPPU

O

OH

CH2OH O

GDP-Mannose

OH

COO

NHAC

COO

HO OH HO OPPG

OH

UDP-N-AcGalactosamine

5.1.3.13 O 2.4.1.33

3.2.1.33

O

O

COO

O

O

N

Ribose -O - P - O - P - O- Adenosine(P)

+ CH2CH(NH3)COO

HO

CH2CHO

19

(Sialate)

HO

CH2OH O

4.2.1.47 O

CH3

OH

LACTOSE

CH2OH O

1.2.3.7

+

O

O

NAD(P)+

1.

HO O CH2 C

COO -

NHCOCH 3

UDP-N-Ac3.1.3.29 ACNH 4.1.3.20 Glucosamine HO OH OH pyruvate N-Ac-Mannosamine-6-P

H E X O S E S

5.1.3.12

OPPU

OH

OH 2.7.7.43

CH2OP O

GDP-Fucose

2.4.1.16

COO

3.1.3.29

HO

CH2OH O COO

TDP-Rhamnose

GDPMannuronate

OH

OH

2.4.1.1

2.4.1.29

OH OH

HO OPPG

HO

OH

OH

NH

Indoxyl

(Auxin)

O OH

2.4.1.21

OPPT

CH3

OH

UDP-N-Ac-Muramate O

OPPU

OH

UDPIduronate

COO-

HO

AcNH

HO

2.4.1.17

NHAC

O

HO CH3

O

NH

Indoleacetate

5

OPC

1.1.1.132

2.4.1.68 2.4.1.69

CH2OH O

5.

2.4.99.7

CH2OH

O COO -

6.3.2.7-10 6.3.2.13 HO O

CH2OH O

HO

+

N

OH

3.

COO -

CHONDROITIN

O

CH2COO

4.

Glucose-6-phosphatase (3.1.3.9) GSD Type I Von Gierke Disease MIM 232200

2

COO

CONH 2

GLYCOGEN

1.

Amylo-1,6-glucosidase (3.2.1.33) Glucanotransferase (2.4.1.25) GSD Type III Cori Disease MIM 232400

O

CHOH CHOH

AcNH

PEPTIDOGLYCAN CH OHCHITIN

BLOOD GROUP ALGINATES O-ANTIGENS STARCH SUBSTANCES PECTIN INULIN CELLULOSE

DERMATAN

6.

LIVER GLYCOGENOSES

HYALURONIC ACID

GLYCOPROTEINS GANGLIOSIDES MUCINS

P

Muscle glycogen phosphorylase (2.4.1.1) GSD Type V McArdle Disease MIM 232600

P O L Y S A C C H A R I D E S

3 3

MUSCLE GLYCOGENOSES

Proton Flow

1.5.1.2 Small Numbers ( eg. 2.4.6.7) refer to the IUBMB Enzyme Commission (EC) Reference Numbers of Enzymes

Ornithine carbamoyl transferase (2.1.3.3) OCT Deficiency MIM 311250 Argininosuccinate synthase (6.3.4.5) Citrullinaemia MIM 215700 Argininosuccinate lyase (4.3.2.1) Argininosuccinate Aciduria MIM 207900

Designed by Donald 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. 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