{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:55:07Z","timestamp":1790376907876,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,1,10]],"date-time":"2012-01-10T00:00:00Z","timestamp":1326153600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000691","name":"Academy of Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Riboflavin and ubiquinone (Coenzyme Q<jats:sub>10<\/jats:sub>, CoQ<jats:sub>10<\/jats:sub>) deficiencies are heterogeneous groups of autosomal recessive conditions affecting both children and adults. Riboflavin (vitamin B<jats:sub>2<\/jats:sub>)\u2010derived cofactors are essential for the function of numerous dehydrogenases. Genetic defects of the riboflavin transport have been detected in Brown\u2010Vialetto\u2010Van Laere and Fazio\u2010Londe syndromes (<jats:italic>C20orf54<\/jats:italic>), and haploinsufficiency of <jats:italic>GPR172B<\/jats:italic> has been proposed in one patient to cause persistent riboflavin deficiency. Mutations in the electron tranferring fravoprotein genes (<jats:italic>ETFA\/ETFB<\/jats:italic>) and its dehydrogenase (<jats:italic>ETFDH<\/jats:italic>) are causative for multiple acyl\u2010CoA dehydrogenase deficiency. Mutations in <jats:italic>ACAD9<\/jats:italic>, encoding the acyl\u2010CoA dehydrogenase 9 protein were recently reported in mitochondrial disease with respiratory chain complex I deficiency. All these conditions may respond to riboflavin therapy. CoQ<jats:sub>10<\/jats:sub> is a lipid\u2010soluble component of the cell membranes, where it functions as a mobile electron and proton carrier, but also participates in other cellular processes as a potent antioxidant, and by influencing pyrimidine metabolism. The increasing number of molecular defects in enzymes of the CoQ<jats:sub>10<\/jats:sub> biosynthetic pathways (<jats:italic>PDSS1, PDSS2, COQ2, COQ6, COQ9, CABC1\/ADCK3<\/jats:italic>) underlies the importance of these conditions. The clinical heterogeneity may reflect blocks at different levels in the complex biosynthetic pathway. Despite the identification of several primary CoQ<jats:sub>10<\/jats:sub> deficiency genes, the number of reported patients is still low, and no true genotype\u2010phenotype correlations are known which makes the genetic diagnosis still difficult. Additionally to primary CoQ<jats:sub>10<\/jats:sub> deficiencies, where the mutation impairs a protein directly involved in CoQ<jats:sub>10<\/jats:sub> biosynthesis, we can differentiate secondary deficiencies. CoQ<jats:sub>10<\/jats:sub> supplementation may be beneficial in both primary and secondary deficiencies and therefore the early recognition of these diseases is of utmost importance.<\/jats:p>","DOI":"10.1007\/s10545-011-9434-1","type":"journal-article","created":{"date-parts":[[2012,1,9]],"date-time":"2012-01-09T09:49:37Z","timestamp":1326102577000},"page":"679-687","source":"Crossref","is-referenced-by-count":68,"title":["Update on clinical aspects and treatment of selected vitamin\u2010responsive disorders II (riboflavin and CoQ<sub>10<\/sub>)"],"prefix":"10.1002","volume":"35","author":[{"given":"Rita","family":"Horvath","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine Newcastle University Central Parkway Newcastle upon Tyne NE1 3BZ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,10]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0612-0"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000134607.76780.B2"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9242-z"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006080833"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.018"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm054"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2010.05.008"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq273"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000113719.67643.B7"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.006"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.706"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI45693"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M805719200"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2011.01.002"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21399"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000194241.35115.7c"},{"key":"e_1_2_12_18_1","doi-asserted-by":"crossref","unstructured":"HorvathR CzerminB GulatiS et al. (2011)Adult\u2010onset cerebellar ataxia due to mutations in CABC1\/ADCK3.J Neurol Neurosurg Psychdoi:10.1136\/jnnp\u20102011\u2010301258","DOI":"10.1136\/jnnp-2011-301258"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr170"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.01.010"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.024"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.2.317"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000055089.39373.FC"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000252366.10731.43"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00097-0"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/510023"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0011897"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10371"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI29089"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.022"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2008.10.027"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.7.849"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.7.2379"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10226"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm135"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.108"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000150588.75281.58"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.1086\/500092"},{"key":"e_1_2_12_39_1","doi-asserted-by":"crossref","unstructured":"RahmanS ClarkeCF HiranoM(2011)176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q(10) deficiency.Neuromuscul Disorddoi:10.1016\/j.nmd.2011.05.001","DOI":"10.1016\/j.nmd.2011.05.001"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02531-9"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.10.014"},{"key":"e_1_2_12_42_1","unstructured":"WolfeLA HeM VockleyJet al. (2010)Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II\u2010III deficiency in liver and muscle.J inherit Metab Dis. doi:10.1007\/s10545\u2010010\u20109246\u20108"},{"key":"e_1_2_12_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr069"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9434-1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-011-9434-1","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9434-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:10:27Z","timestamp":1694815827000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9434-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,10]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1007\/s10545-011-9434-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9434-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,10]]}}}