GTR Home > Conditions/Phenotypes > Coenzyme Q10 deficiency, primary, 4

Summary

Excerpted from the GeneReview: Primary Coenzyme Q10 Deficiency
Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.

Available tests

32 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9, COQ8A
    Summary: coenzyme Q8A

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