Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Isolated methylmalonic acidemia
Isolated methylmalonic acidemia
Disease Category: Organic Acidemias
Methylmalonic acidemia refers to a genetic metabolic condition in which the body cannot 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 pattern. Long-term complications can include growth delay, intellectual disability, kidney disease, and pancreatitis. Methylmalonic acidemia is included on the recommended uniform newborn screening panel in the United States.
Research groups studying this disease
Organic Acidemias
Rare Organic Acidemias Research Consortium (ROAR)
Organic Acidemia Association
Our mission is to empower families and healthcare professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of organic acid disorders.