168 top medical experts on Beta ketothiolase deficiency across 19 countries and 4 U.S. states, including 8 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Beta ketothiolase deficiency: A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations

Organizations Providing General Support

  • Synonyms: 2-Alpha-Methyl-3-Hydroxybutyricacidemia,  2-Methyl-3-Hydroxybutyric Acidemia,  2-methyl-3-hydroxybutyricacidemia,  3-Alpha-Ketothiolase Deficiency,  3-Alpha-Ktd Deficiency,  3-Alpha-Oxothiolase Deficiency,  3-Methylhydroxybutyric Acidemia,  3-ketothiolase deficiency,  3-oxothiolase deficiency,  Alpha-Methylacetoacetic Aciduria,  Alpha-methylacetoaceticaciduria,  B-Ketothiolase Deficiency,  Beta-Ketothiolase Deficiency,  Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated,  Mitochondrial Acetoacetyl-CoA Thiolase deficiency,  T2 Deficiency


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