Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Coenzyme Q10 deficiency 2

Coenzyme Q10 deficiency type 1 is an autosomal recessive disorder affecting the central nervous system; muscles; and occasionally kidneay, heart, and growth. It is caused by mutations of the PDSS1 gene.

Clinical Findings

Five major clinical phenotypes can be distinguished: (1) encephalomyopathic form with ataxia and seizures; (2) multisystem infantile form with encephalopathy, cardiomyopathy, and nephropathy; (3) cerebellar form with cerebellar atrophy and consequentially ataxia; (4) Leigh syndrome with growth retardation; and (5) isolated myopathic form.

Management

The disorder can be successfully treated in some cases by Coenzyme Q10 substitution.

Systematic

Coenzyme Q10 deficiency
Coenzyme Q10 deficiency 1
Coenzyme Q10 deficiency 2
PDSS1
Coenzyme Q10 deficiency 3
Coenzyme Q10 deficiency 4
Coenzyme Q10 deficiency 5
Coenzyme Q10 deficiency 6

References:

1.

Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

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2.

OMIM.ORG article

Omim 614651 [^]
Update: April 29, 2019