Riboflavin and CoQ disorders

Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology. 2007 Jan 23;68(4):295–7. doi: 10.1212/01.wnl.0000252366.10731.43. PMID: 17242337.

Metabolites



Enzyme

EC Number name full name note
2.7.-.-
1.14.13.253 3-demethoxyubiquinone 3-hydroxylase (NADH) 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone,NADH:oxygen oxidoreductase (5-hydroxylating)
1.14.15.45 4-hydroxy-3-polyprenylbenzoate 5-hydroxylase 4-hydroxy-3-all-trans-polyprenylbenzoate,ferredoxin:oxygen oxidoreductase (5-hydroxylating)
1.14.15.46 2-methoxy-6-polyprenylphenol 4-hydroxylase 2-methoxy-6-(all-trans-polyprenyl)phenol,ferredoxin:oxygen oxidoreductase (4-hydroxylating)
1.5.5.1 electron-transferring-flavoprotein dehydrogenase electron-transferring-flavoprotein:ubiquinone oxidoreductase
2.5.1.39 4-hydroxybenzoate polyprenyltransferase polyprenyl-diphosphate:4-hydroxybenzoate polyprenyltransferase
2.5.1.91 all-trans-decaprenyl-diphosphate synthase (2E,6E)-farnesyl-diphosphate:isopentenyl-diphosphate farnesyltranstransferase (adding 7 isopentenyl units)
2.7.1.26 riboflavin kinase ATP:riboflavin 5'-phosphotransferase
2.7.7.2 FAD synthase ATP:FMN adenylyltransferase
3.6.1.18 FAD diphosphatase FAD nucleotidohydrolase
3.6.1.22 NAD+ diphosphatase NAD+ phosphohydrolase
3.6.1.71 adenosine-5'-diphospho-5'-[DNA] diphosphatase adenosine-5'-diphospho-5'-[DNA] hydrolase (adenosine 5'-phosphate-forming)
3.6.1.72 DNA-3'-diphospho-5'-guanosine diphosphatase [DNA]-3'-diphospho-5'-guanosine hydrolase (guanosine 5'-phosphate-forming)


Proteins

Protein ID name full name