Fel i hjärnans ämnesomsättning pga medfödda, primärt enzymatiska, bristtillstånd. Flertalet av dessa sjukdomar är ärftliga, men spontana förändringar kan också förekomma. Bristfällig enzymverksamhet kan ge upphov till funktionsstörningar genom ansamling av något ämne, genom underproduktion av ämnen, eller genom att förorsaka alternativa metaboliska processer.
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.
Medfödda metabola encefalopatier — Ärftliga metabola hjärnsjukdomar — Medfödda metabola centrala nervsystemets sjukdomar
Brain Syndrome, Metabolic, Inborn — Encephalopathies, Metabolic, Inborn — Inborn Errors of Metabolism, Brain — Inborn Metabolic Brain Diseases — Inborn Metabolic Brain Disorders — Inborn Metabolic Disorders, Brain — Metabolic Brain Diseases, Inborn — Metabolic Brain Syndrome, Inborn — Metabolic Diseases, Inborn, Brain — Central Nervous System Inborn Metabolic Diseases — Central Nervous System Inborn Metabolic Disorders — CNS Metabolic Disorders, Inborn — Metabolic Diseases, Inborn, Central Nervous System — Metabolic Disorders, CNS, Inborn — Brain Diseases, Metabolic, Inherited — Metabolic Disorders, Familial, Brain — Brain Diseases, Metabolic, Familial — Familial Metabolic Brain Diseases — Familial Metabolic Disorders, Brain — Inherited Metabolic Brain Diseases — Inherited Metabolic Disorders, Brain — Metabolic Brain Diseases, Familial — Metabolic Disorders, Brain, Inherited — Metabolic Brain Diseases, Inherited