This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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.
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