What are Metabolic Diseases of the Central Nervous System?

Metabolic Diseases of the Central Nervous System
Hepatic encephalopathy by C virus. Female, 69-year-old. At non-contrast- enhancedT1-weighted image areas of hypersignal are visualized on the region of the globuspallidus, subthalami and base of the cerebral peduncles. Toxic and metabolic encephalopathies: iconographic essay. Bimbato EM, Carvalho AG, Reis F - Radiologia brasileira (2015 Mar-Apr). Not Altered. CC.

Metabolic diseases of the central nervous system are genetically associated abnormalities of enzymes. The metabolic consequences of defective enzymes affect the development or functioning of the nervous system. Although most metabolic diseases of the central nervous system occur in children, some can present in adult life.

Examples of metabolic diseases of the central nervous system include: 

  • Leukodystrophies
  • Neuronal storage disease 
  • Mitochondrial encephalomyopathies