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Carnitine Acetyltransferase Deficiency

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
- Cranial Nerve Diseases: 554
  - Ocular Motility Disorders: 514
    - Oculomotor Nerve Diseases: 222
      - Carnitine Acetyltransferase Deficiency: 1
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Acyltransferases: 374
      - Acetyltransferases: 1040
        Carnitine O-Acetyltransferase: 33
        Carnitine Acetyltransferase Deficiency: 1
      - Carnitine Acyltransferases: 23
        Carnitine O-Acetyltransferase: 33
        Carnitine Acetyltransferase Deficiency: 1
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Confusion: 7125
    - Carnitine Acetyltransferase Deficiency: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Carnitine Acetyltransferase Deficiency: 1
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Carnitine Acetyltransferase Deficiency: 1
Eye Diseases: 3522
- Ocular Motility Disorders: 514
  - Oculomotor Nerve Diseases: 222
    - Carnitine Acetyltransferase Deficiency: 1

Related Diseases

1.	Brain Diseases (Brain Disorder)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Carnitine Acetyltransferase Deficiency:

1.	Pyruvic Acid (Pyruvate)IBA 12/01/1979 - "Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: a functional defect of pyruvate oxidation?"
2.	Acetyl Coenzyme A (Acetyl-CoA)IBA 12/01/1979 - "It is proposed that a functional defect of acetyl-coenzyme A (acetyl-CoA) utilization in brain mitochondria accompanies the carnitine acetyltransferase deficiency."