New research from the Rare Organic Acidemias Research Consortium (ROAR). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on June 30, 2026, titled "Immune Dysregulation in Branched Chain Organic Acidemias." 

Read the paper here. 

Learn more about ROAR: https://roar.rarediseasesnetwork.org/

Transcript: 

New research from the Rare Organic Acidemias Research Consortium (ROAR), a research group of the Rare Diseases Clinical Research Network.

Exploring Clinical and Mechanistic Data on Immune Dysregulation in Organic Acidemias.

This summary is based on a paper published in the Journal of Inherited Metabolic Disease on June 30, 2026.

Organic acidemias are a group of inherited metabolic disorders where the body cannot properly break down certain proteins and fats, leading to a buildup of organic acids. Individuals with organic acidemias commonly experience metabolic and neurological crises. Although many individuals also experience frequent infections and immune issues, less is known about these types of symptoms.

In this review, researchers explored clinical and mechanistic data on immune dysregulation in organic acidemias. First, the team searched for data from clinical cohorts, case reports, and mechanistic studies related to organic acidemias and immune dysfunction. Then, they used this data to build a conceptual model of immune dysregulation in organic acidemias and identify key gaps for future research.

Results show that immune dysregulation is a common feature of organic acidemias, even during metabolically stable periods. Authors note that integrating immune monitoring into the care and study of patients with these disorders is essential to fully understanding and addressing how organic acidemias affect multiple systems in the body.