302 top medical experts on Inborn Metabolic Brain Diseases across 39 countries and 25 U.S. states, including 116 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Errors Metabolism (1,547), Metabolic Brain Diseases (2,299) and Narrower Categories: Adrenoleukodystrophy (1,753), Familial Cerebral Amyloid Angiopathy (269), Galactosemias (1,096), Hartnup Disease (43), Hepatolenticular Degeneration (1,112), Hereditary Central Nervous System Demyelinating Diseases (1,644), Homocystinuria (1,545), Hyperlysinemias (53), Inborn Urea Cycle Disorders (1,187), Infantile Refsum Disease (44), Leigh Disease (2,203), Lesch-Nyhan Syndrome (488), MELAS Syndrome (1,833), MERRF Syndrome (410), Maple Syrup Urine Disease (1,061), Menkes Kinky Hair Syndrome (646), Mevalonate Kinase Deficiency (688), Nervous System Lysosomal Storage Diseases (88), Nonketotic Hyperglycinemia (543), Oculocerebrorenal Syndrome (526), Phenylketonurias (1,212), Pyruvate Carboxylase Deficiency Disease (67), Pyruvate Dehydrogenase Complex Deficiency Disease (338), Refsum Disease (141), Tyrosinemias (1,107), Zellweger Syndrome (501).
  4. Clinical Trials ClinicalTrials.gov : at least 3 including 1 Completed, 2 Recruiting
  5. Synonyms: Central Nervous System Inborn Metabolic Diseases,  Familial Metabolic Brain Diseases,  Brain Inborn Errors of Metabolism,  Brain Inborn Metabolic Diseases


  

        

                    


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