KEGG   DISEASE: Coenzyme Q10 deficiency
Entry
H00999                      Disease                                
Name
Coenzyme Q10 deficiency
Description
Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem disease including encephalopathy and nephropathy. It has been shown that mutations in some genes involved in CoQ10 biosynthesis cause primary CoQ10 deficiency.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00999  Coenzyme Q10 deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H00999  Coenzyme Q10 deficiency
Related
pathway
hsa00130  Ubiquinone and other terpenoid-quinone biosynthesis
hsa01240  Biosynthesis of cofactors
hsa00900  Terpenoid backbone biosynthesis
Gene
(COQ10D1) COQ2 [HSA:27235] [KO:K06125]
(COQ10D2) PDSS1 [HSA:23590] [KO:K12504]
(COQ10D3) PDSS2 [HSA:57107] [KO:K12505]
(COQ10D4) COQ8A [HSA:56997] [KO:K08869]
(COQ10D5) COQ9 [HSA:57017] [KO:K18587]
(COQ10D6) COQ6 [HSA:51004] [KO:K06126]
(COQ10D7) COQ4 [HSA:51117] [KO:K18586]
(COQ10D8) COQ7 [HSA:10229] [KO:K06134]
(COQ10D9) COQ5 [HSA:84274] [KO:K06127]
Other DBs
ICD-11: 5C53.22
ICD-10: G11.1
MeSH: C564403
OMIM: 607426 614651 614652 612016 614654 614650 616276 616733 619028
Reference
  Authors
Spindler M, Beal MF, Henchcliffe C
  Title
Coenzyme Q10 effects in neurodegenerative disease.
  Journal
Neuropsychiatr Dis Treat 5:597-610 (2009)
DOI:10.2147/ndt.s5212
Reference
  Authors
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Burgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D
  Title
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
  Journal
Am J Hum Genet 96:309-17 (2015)
DOI:10.1016/j.ajhg.2014.12.023
Reference
  Authors
Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rotig A, Nurnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Muller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocana C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nurnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F
  Title
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
  Journal
J Clin Invest 121:2013-24 (2011)
DOI:10.1172/JCI45693
Reference
  Authors
Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterstrom RH, von Dobeln U, Wredenberg A, Wedell A
  Title
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
  Journal
J Med Genet 52:779-83 (2015)
DOI:10.1136/jmedgenet-2015-102986
Reference
  Authors
Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y
  Title
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
  Journal
Hum Mutat 39:69-79 (2018)
DOI:10.1002/humu.23345
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