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| Brain Diseases, Metabolic, Inborn Central Nervous System Inborn Metabolic Diseases | Familial Metabolic Brain Diseases | Inborn Errors of Metabolism, Brain | Metabolic Diseases, Inborn, Brain | Brain Diseases, Metabolic, Familial | Brain Diseases, Metabolic, Inherited Errors of brain metabolism resulting from inborn, primarily enzymatic, deficiency states. The majority of these conditions are familial, however spontaneous mutation may also occur. Deficient enzyme activity may cause brain dysfunction by leading to the accumulation of substrate, reduced product formation, or by causing metabolism to occur through alternate pathways. |