Inborn Metabolic Brain Diseases

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Also Known As:
Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic, Familial; Brain Diseases, Metabolic, Inherited; Brain Syndrome, Metabolic, Inborn; CNS Metabolic Disorders, Inborn; Central Nervous System Inborn Metabolic Disorders; Encephalopathies, Metabolic, Inborn; Familial Metabolic Disorders, Brain; Inborn Metabolic Brain Disorders; Inborn Metabolic Disorders, Brain; Inherited Metabolic Brain Diseases; Inherited Metabolic Disorders, Brain; Metabolic Brain Diseases, Familial; Metabolic Brain Diseases, Inborn; Metabolic Brain Diseases, Inherited; Metabolic Brain Syndrome, Inborn; Metabolic Diseases, Inborn, Central Nervous System; Metabolic Disorders, Brain, Inherited; Metabolic Disorders, CNS, Inborn; Metabolic Disorders, Familial, Brain; Central Nervous System Inborn Metabolic Diseases; Familial Metabolic Brain Diseases; Inborn Errors of Metabolism, Brain; Metabolic Diseases, Inborn, Brain
Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Chromosome Disorders (Chromosome Disorder)
2. Infection
3. Epilepsy (Aura)


1. Kaminska, Anna: 1 article (01/2013)
2. Plouin, Perrine: 1 article (01/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Inborn Metabolic Brain Diseases:
1. Vitamin B 6IBA