Research Publications
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Lang SH, Shanghvi D, Divin K, Donaruma M, Sutton VR, Bachim A. Glutaric aciduria type 1 as a mimicker of abusive head trauma in the era of newborn screening. Child Abuse Negl. 2026 Jul 7;179:108212. doi: 10.1016/j.chiabu.2026.108212. Epub ahead of print. PMID: 42413254.
Shakerdi AL, Drda J, Dutta JA, Vockley J. Immune Dysregulation in Branched Chain Organic Acidemias. J Inherit Metab Dis. 2026 Jul;49(4):e70203. doi: 10.1002/jimd.70203.
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.