Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ10)

Journal of Inherited Metabolic Disease

Volumn 35, Issue 4, 2012, Pages 679-687

  Horvath, Rita ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE 9; ELECTRON TRANSFERRING FLAVOPROTEIN; FLAVINE ADENINE NUCLEOTIDE; FLAVINE MONONUCLEOTIDE; IDEBENONE; OXIDOREDUCTASE; PYRIMIDINE; RIBOFLAVIN; UBIDECARENONE; UBIQUINOL; UBIQUINONE; UNCLASSIFIED DRUG;

ADCK3 GENE; AUTOSOMAL RECESSIVE DISORDER; BROWN VIALETTO VAN LAERE SYNDROME; C20ORF54 GENE; CABC1 GENE; CARBOHYDRATE DIET; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL FEATURE; COENZYME Q10 DEFICIENCY; COMPLEX I DEFICIENCY; CONFERENCE PAPER; COQ2 GENE; COQ6 GENE; COQ9 GENE; DRUG MEGADOSE; ELECTRON TRANSPORT; ENCEPHALOMYOPATHY; ENZYME SYNTHESIS; ETFA GENE; ETFB GENE; ETFDH GENE; FAZIO LONDE DISEASE; GENE MUTATION; GENE PRODUCT; GENETIC CODE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; GPR172B GENE; GROWTH RETARDATION; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEPHROSIS; PDSS1 GENE; PDSS2 GENE; PROTEIN TRANSPORT; PROTON TRANSPORT; PYRIMIDINE METABOLISM; RIBOFLAVIN DEFICIENCY; VITAMIN DEFICIENCY;

GENETIC ASSOCIATION STUDIES; HUMANS; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATION; RIBOFLAVIN; RIBOFLAVIN DEFICIENCY; UBIQUINONE; VITAMINS;

EID: 84863874490     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9434-1     Document Type: Conference Paper

References (42)

1. Aeby A, Sznajer Y, Cavé H et al. (2007) Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. J Inherit Metab Dis 30:827
2. Auré K, Benoist JF, Ogier de Baulny H, Romero NB, Rigal O, Lombès A (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect. Neurology 63:727-729
3. Bosch AM, Abeling NG, Ijlst L et al. (2010) Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 34:159-164
4. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM et al. (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 18:2773-2780 (Pubitemid 47531205)
5. Duncan AJ, Bitner-Glindzicz M, Meunier B et al. (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet 84:558-566
6. Gempel K, Topaloglu H, Talim B et al. (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring- flavoprotein dehydrogenase (ETFDH) gene. Brain 130:2037-2044 (Pubitemid 47236610)
7. Gerards M, van den Bosch B, Calis C et al. (2010) Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion 10:510-515
8. Gerards M, van den Bosch BJ, Danhauser K et al. (2011) Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain 134:210-219
9. Gironi M, Lamperti C, Nemni R et al. (2004) Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology 62:818-820 (Pubitemid 38298968)
10. Green P, Wiseman M, Crow YJ et al. (2010) Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet 86:485-489
11. Haack TB, Danhauser K, Haberberger B et al. (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42:1131-1134
12. Heeringa SF, Chernin G, Chaki M et al. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 121:2013-2024
13. Henriques BJ, Rodrigues JV, Olsen RK, Bross P, Gomes CM (2009) Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation. J Biol Chem 284:4222-4229
14. Henriques BJ, Fisher MT, Bross P, Gomes CM (2011) A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress. FEBS Lett 585:505-510
15. Ho G, Yonezawa A, Masuda S et al. (2011) Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Hum Mutat 32:E1976-E1984
16. Horvath R, Schneiderat P, Schoser BGH et al. (2006) Coenzyme Q10 deficiency may cause isolated myopathy. Neurology 66:253-255
17. Horvath R, Czermin B, Gulati S, et al. (2011) Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. J Neurol Neurosurg Psych doi:10.1136/jnnp-2011-301258
18. Klopstock T, Yu-Wai-Man P, Dimitriadis K et al. (2011) A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain 134:2677-2686
19. Laforêt P, Vianey-Saban C, Vissing J (2010) 162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28-30 November 2008, Bussum, The Netherlands. Neuromuscul Disord 20:283-289
20. Lagier-Tourenne C, Tazir M, López LC et al. (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 82:661-672 (Pubitemid 351735958)
21. Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F (2005) Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol 62:317-320 (Pubitemid 40204756)
22. Lamperti C, Naini A, Hirano M et al. (2003) Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 60:1206-1208 (Pubitemid 36418793)
23. Le Ber I, Dubourg O, Benoist JF et al. (2007) Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology 68:295-297 (Pubitemid 46148344)
24. Leshinsky-Silver E, Levine A, Nissenkorn A et al. (2003) Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency. Mol Genet Metab 79:288-293 (Pubitemid 37013537)
25. 10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2)Mutations. Am J Hum Genet 79:1125-1130
26. López LC, Quinzii CM, Area E et al. (2010) Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. PLoS One 5:e11897
27. Maldergem LV, Trijbels F, DiMauro S et al. (2002) Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol 52:750-754 (Pubitemid 35403184)
28. Mollet J, Giurgea I, Schlemmer D et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 117:765-772 (Pubitemid 46348535)
29. Mollet J, Delahodde A, Serre V et al. (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 82:623-630 (Pubitemid 351735957)
30. Montero R, Sánchez-Alcázar JA, Briones P et al. (2009) Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. Clin Biochem 42:742-745
31. Musumeci O, Naini A, Slonim AE et al. (2001) Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 56:849-855 (Pubitemid 32290800)
32. Ogasahara S, Engel AG, Frens D, Mack D (1989) Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci 86:2379-2382 (Pubitemid 19102512)
33. Olsen RK, Andresen BS, Christensen E et al. (2003) Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 22:12-23 (Pubitemid 36807768)
34. Olsen RK, Olpin SE, Andresen BS et al. (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045-2054 (Pubitemid 47236622)
35. Quinzii CM, Hirano M (2010) Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev 16:183-188
36. Quinzii CM, Kattah AG, Naini A et al. (2005) Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64:539-541 (Pubitemid 40189878)
37. Quinzii C, Naini A, Salviati L et al. (2006) A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. Am J Hum Genet 78:345-349 (Pubitemid 43157573)
38. Rahman S, Clarke CF, Hirano M (2011) 176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q(10) deficiency. Neuromuscul Disord doi:10.1016/j.nmd.2011.05.001
39. Rotig A, Appelkvist EL, Geromel V et al. (2000) Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 356:391-395 (Pubitemid 30487496)
40. Sacconi S, Trevisson E, Salviati L et al. (2010) Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord 20:44-48
41. Wolfe LA, He M, Vockley J et al. (2010) Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle. J inherit Metab Dis. doi:10.1007/s10545-010-9246-8
42. Yokoseki A, Ishihara T, Koyama A et al. (2011) Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. Brain 134:1387-1399