Methylmalonic Aciduria Due to Cobalamin-Related Disorders

Metabolites

(R)-Methylmalonyl-CoA

Formula: C25H40N7O19P3S (867.131248)

CAS ID: 73173-92-9

(S)-Methylmalonate semialdehyde

Formula: C4H6O3 (102.0316926)

CAS ID: 99043-16-0

2-Oxobutanoate

Formula: C4H6O3 (102.0316926)

CAS ID: 600-18-0

2-Oxoglutarate

Formula: C5H6O5 (146.0215226)

CAS ID: 328-50-7

3-Hydroxypropanoate

Formula: C3H6O3 (90.0316926)

CAS ID: 503-66-2

3-Oxopropanoate

Formula: C3H4O3 (88.0160434)

CAS ID: 926-61-4

3-Oxopropionyl-CoA

Formula: C24H38N7O18P3S (837.1206838)

CAS ID: 6244-93-5

Acetyl-CoA

Formula: C23H38N7O17P3S (809.1257688000001)

CAS ID: 72-89-9

ADP

Formula: C10H15N5O10P2 (427.02941500000003)

CAS ID: 58-64-0

AMP

Formula: C10H14N5O7P (347.06308240000004)

CAS ID: 61-19-8

ATP

Formula: C10H16N5O13P3 (506.9957476)

CAS ID: 56-65-5

beta-Alanine

Formula: C3H7NO2 (89.0476762)

CAS ID: 107-95-9

CO2

Formula: CO2 (43.98983)

CAS ID: 124-38-9

H+

Formula: H (1.0078246)

CAS ID: 12408-02-5

H2O

Formula: H2O (18.0105642)

CAS ID: 7732-18-5

HCO3-

Formula: HCO3 (60.9925696)

CAS ID: 71-52-3

L-Glutamate

Formula: C5H9NO4 (147.0531554)

CAS ID: 56-86-0

L-Valine

Formula: C5H11NO2 (117.0789746)

CAS ID: 72-18-4

Methylmalonate

Formula: C4H6O4 (118.0266076)

CAS ID: 516-05-2

NAD+

Formula: C21H28N7O14P2 (664.1169428000001)

CAS ID: 53-84-9

NADH

Formula: C21H29N7O14P2 (665.1247674)

CAS ID: 58-68-4

Orthophosphate

Formula: H3PO4 (97.9768968)

CAS ID: 7664-38-2

Pantetheine

Formula: C11H22N2O4S (278.1300212)

CAS ID: 496-65-1

Propanoate

Formula: C3H6O2 (74.0367776)

CAS ID: 79-09-4

Propionyladenylate

Formula: C13H18N5O8P (403.0892958)

CAS ID: 106360-28-5

diphosphate

Formula: O7P2 (173.911931)

CAS ID: 14000-31-8



Enzyme

EC Number name full name note
1.1.1.27 L-lactate dehydrogenase (S)-lactate:NAD+ oxidoreductase
1.2.1.27 methylmalonate-semialdehyde dehydrogenase (CoA-acylating) 2-methyl-3-oxopropanoate:NAD+ 3-oxidoreductase (CoA-propanoylating)
1.2.4.4 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) 3-methyl-2-oxobutanoate:[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase]-lipoyllysine 2-oxidoreductase (decarboxylating, acceptor-2-methylpropanoylating)
1.3.8.7 medium-chain acyl-CoA dehydrogenase medium-chain acyl-CoA:electron-transfer flavoprotein 2,3-oxidoreductase
1.8.1.4 dihydrolipoyl dehydrogenase protein-N6-(dihydrolipoyl)lysine:NAD+ oxidoreductase
2.3.1.168 dihydrolipoyllysine-residue (2-methylpropanoyl)transferase 2-methylpropanoyl-CoA:enzyme-N6-(dihydrolipoyl)lysine S-(2-methylpropanoyl)transferase
2.3.1.9 acetyl-CoA C-acetyltransferase acetyl-CoA:acetyl-CoA C-acetyltransferase
2.6.1.19 4-aminobutyrate-2-oxoglutarate transaminase 4-aminobutanoate:2-oxoglutarate aminotransferase
2.6.1.22 (S)-3-amino-2-methylpropionate transaminase (S)-3-amino-2-methylpropanoate:2-oxoglutarate aminotransferase
3.1.2.4 3-hydroxyisobutyryl-CoA hydrolase 3-hydroxy-2-methylpropanoyl-CoA hydrolase
4.1.1.9 malonyl-CoA decarboxylase malonyl-CoA carboxy-lyase (acetyl-CoA-forming)
4.2.1.17 enoyl-CoA hydratase (3S)-3-hydroxyacyl-CoA hydro-lyase
5.1.99.1 methylmalonyl-CoA epimerase methylmalonyl-CoA 2-epimerase
5.3.3.8 DELTA3-DELTA2-enoyl-CoA isomerase (3Z/3E)-alk-3-enoyl-CoA (2E)-isomerase
6.2.1.1 acetate-CoA ligase acetate:CoA ligase (AMP-forming)
6.2.1.17 propionate-CoA ligase propanoate:CoA ligase (AMP-forming)
6.4.1.2 acetyl-CoA carboxylase acetyl-CoA:hydrogencarbonate ligase (ADP-forming)
6.4.1.3 propionyl-CoA carboxylase propanoyl-CoA:carbon-dioxide ligase (ADP-forming)


Proteins

Protein ID name full name