Coenzyme Q10 Deficiency

A rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (UBIQUINONE). There are five major phenotypes: an encephalomyopathic form with SEIZURES and ATAXIA ; a multisystem infantile form with encephalopathy, CARDIOMYOPATHY and RENAL FAILURE; a predominantly cerebellar form with ataxia and cerebellar atrophy; LEIGH SYNDROME with growth retardation; and an isolated myopathic form. The molecular disease mechanism remains unknown, but mutations in a number of genes have been identified, OMIM: 607426

Also Known As:

CoQ Deficiency; Coenzyme Q Deficiency; Coq10 Deficiency, Primary; Ubiquinone Deficiency

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Coenzyme Q10 Deficiency: 144
  - Neuromuscular Manifestations: 23
    - Muscle Weakness: 4747
      - Coenzyme Q10 Deficiency: 144
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Muscle Weakness: 4747
    - Coenzyme Q10 Deficiency: 144
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Coenzyme Q10 Deficiency: 144
    - Neuromuscular Manifestations: 23
      - Muscle Weakness: 4747
        Coenzyme Q10 Deficiency: 144
Organic Chemicals: 133
- Quinones: 434
  - Benzoquinones: 25
    - Ubiquinone: 788
      - Coenzyme Q10 Deficiency: 144
Enzymes and Coenzymes: 1
- Coenzymes: 558
  - Ubiquinone: 788
    - Coenzyme Q10 Deficiency: 144
Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Muscle Weakness: 4747
    - Coenzyme Q10 Deficiency: 144
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Coenzyme Q10 Deficiency: 144

Maria A Rodríguez Selected Research

Maria A Rodríguez Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure