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: 14737
- Neurologic Manifestations: 7223
  - Dyskinesias: 7933
    - Ataxia: 6487
      - Coenzyme Q10 Deficiency: 150
  - Neuromuscular Manifestations: 24
    - Muscle Weakness: 4910
      - Coenzyme Q10 Deficiency: 150
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Muscle Weakness: 4910
    - Coenzyme Q10 Deficiency: 150
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Dyskinesias: 7933
      - Ataxia: 6487
        Coenzyme Q10 Deficiency: 150
    - Neuromuscular Manifestations: 24
      - Muscle Weakness: 4910
        Coenzyme Q10 Deficiency: 150
Organic Chemicals: 140
- Quinones: 443
  - Benzoquinones: 25
    - Ubiquinone: 798
      - Coenzyme Q10 Deficiency: 150
Enzymes and Coenzymes: 1
- Coenzymes: 566
  - Ubiquinone: 798
    - Coenzyme Q10 Deficiency: 150
Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Muscle Weakness: 4910
    - Coenzyme Q10 Deficiency: 150
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Mitochondrial Diseases: 22985
    - Coenzyme Q10 Deficiency: 150

Emine Betül Derinkuyu Selected Research

Emine Betül Derinkuyu Research Topics

Disease

Drug/Important Bio-Agent (IBA)