KEGG   DISEASE: H00999Help
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; Hereditary ataxia
BRITE hierarchy
Pathway
Ubiquinone and other terpenoid-quinone biosynthesis
Terpenoid backbone biosynthesis
Gene
ADCK3 [HSA:56997] [KO:K08869]
COQ2 [HSA:27235] [KO:K06125]
COQ9 [HSA:57017] [KO:K18587]
PDSS1 [HSA:23590] [KO:K12504]
PDSS2 [HSA:57107] [KO:K12505]
APTX [HSA:54840] [KO:K10863]
Drug
CoQ10 [DR:D01065]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Spindler M, Beal MF, Henchcliffe C
  Title
Coenzyme Q10 effects in neurodegenerative disease.
  Journal
Neuropsychiatr Dis Treat 5:597-610 (2009)

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