521 top medical experts on Inborn Errors Amino Acid Metabolism across 44 countries and 28 U.S. states, including 376 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Inborn Errors Amino Acid Metabolism: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., acidosis) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
  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) and Narrower Categories: Albinism (840), Alkaptonuria (852), Hyperhomocysteinemia (1,066), Hyperlysinemias (53), Inborn Urea Cycle Disorders (1,187), Maple Syrup Urine Disease (1,061), Multiple Acyl Coenzyme A Dehydrogenase Deficiency (704), Multiple Carboxylase Deficiency (21), Nonketotic Hyperglycinemia (543), Phenylketonurias (1,212), Prolidase Deficiency (192), Propionic Acidemia (1,116), Tyrosinemias (1,107).
  4. Clinical Trials ClinicalTrials.gov : at least 23 including 8 Completed, 9 Recruiting
  5. Synonyms: Congenital Amino Acidopathies


  

        

                    


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