coenzyme Q deficiency (ubiquinone deficiency)
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Genetics
- autosomal recessive
- associated with defects in COQ2 gene
- associated with defects in PDSS1
- associated with APTX mutations (ataxic form)
Clinical manifestations
- variable
- 3 main clinical phenotypes:
- predominantly myopathic form with CNS involvement
- infantile encephalomyopathy with renal dysfunction
- ataxic form with cerebellar atrophy
Laboratory
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/607426
- ↑ 2.0 2.1 ARUP Consult: Hereditary Coenzyme Q Deficiency Syndromes - Ubiquinone Deficiency The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/coenzyme-q-deficiency-syndromes