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Altered Immune Response in Organic Acidemia. BACKGROUND: Most patients with organic acidemia suffer from recurrent infections. Although neutropenia has been reported in multiple studies, other components of the immune system have not been evaluated thoroughly. This study was conducted to assess the immune status of patients with organic acidemia (OA). METHODS: Thirty-three patients with OA followed up in Istanbul University-Cerrahpasa, Cerrahpasa School of Medicine, Nutrition and Metabolism Department and a total of 32 age and sex matched healthy controls were enrolled to the study. The demographic and clinical data were recorded retrospectively from patient files. Complete blood count, immunoglobulins and lymphocyte immunophenotyping were recorded prospectively in a symptom (infection) free period. RESULTS: Among 33 patients enrolled to the study, twenty-one (88%) were diagnosed as methylmalonic acidemia (MMA), 10 (33%) as propionic acidemia (PA) and 2 (6,6%) as isovaleric acidemia (IVA). The mean age of the patients with OA and healthy subjects were 5.89±4.11 years and 5.34±4.36, respectively (p=0.602). Twenty-nine (88%) of the patients had experienced frequent hospital admission, 13 (39%) were admitted to pediatric intensive care unit (PICU), 18 (55%) suffered from sepsis. Naïve helper T cells and recent thymic emigrants were significantly lower in OAs (p<0.001). Various defects in humoral immunity have also been documented including memory B cells and immunoglobulins. CONCLUSIONS: Patients with OAs may show adaptive immune defects rendering them susceptible to infections. Metabolic reprogramming based on nutritional modifications may be a promising therapeutic option in the future.