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coenzyme Q deficiency (ubiquinone deficiency)

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: - see ARUP consult [2]

Related

ubiquinone; coenzyme Q (CoQ, CoQ10, MitoQ, ubidecarenone)

General

inborn error of metabolism

Database Correlations

OMIM 607426

References

  1. OMIM :accession 607426
  2. 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