37 top medical experts on 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency across 4 countries, including 4 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: HMGCS2 Deficiency,  Mitochondrial HMG-CoA Synthase Deficiency


  

        

                    


    Computing Expert Listing ...