249 top medical experts on Maple Syrup Urine Disease across 35 countries and 21 U.S. states, including 84 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Maple Syrup Urine Disease: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (amino acids, branched-chain). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
  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 Amino Acid Metabolism (1,295), Inborn Metabolic Brain Diseases (1,358).
  4. Clinical Trials ClinicalTrials.gov : at least 4 including 2 Completed, 2 Recruiting
  5. Synonyms: Branched-Chain Ketoaciduria,  Thiamine Responsive Maple Syrup Urine Disease


  

        

                    


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