344 top medical experts on Methylmalonic acidemia across 47 countries and 23 U.S. states, including 183 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Methylmalonic acidemia: Methylmalonic acidemia refers to a group of inherited conditions in which the body can’t breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises.Symptoms of a decompensation event include poor feeding, vomiting, trouble breathing, and lack of energy (lethargy). These can occur at different ages and can range from mild to severe. Methylmalonic acidemia is caused by changes in several different genes and is inherited in an autosomal recessive fashion.Treatment includes aggressive management of decompensation events, a low-protein diet, certain medications, antibiotics and, in some cases, liver and kidney transplantation. Some subtypes of methylmalonic acidemia respond to vitamin B12.Long-term complications can include growth delay, intellectual disability , kidney disease , and pancreatitis .Methylmalonic acidemia can be isolated or may occur along with another condition called homocystinuria.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations
  4. Synonyms: methylmalonic Acidemia,  Isolated Methylmalonic Acidemia,  Methylmalonic Aciduria


  

        

                    


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