1. Altered immune response in organic acidemia
- Author
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Ayca Kiykim, Tanyel Zubarioglu, Ilayda Altun, Nihan Burtecene, Birol Topçu, Mehmet Serif Cansever, Haluk Cokugras, Ayse Cigdem Aktuglu Zeybek, Duhan Hopurcuoglu, and Ertugrul Kiykim
- Subjects
medicine.medical_specialty ,Propionic Acidemia ,Methylmalonic acidemia ,Immunoglobulins ,Neutropenia ,Sepsis ,Internal medicine ,medicine ,Humans ,Propionic acidemia ,Child ,Amino Acid Metabolism, Inborn Errors ,Retrospective Studies ,Pediatric intensive care unit ,medicine.diagnostic_test ,Isovaleryl-CoA Dehydrogenase ,business.industry ,Immunity ,Complete blood count ,Infant ,medicine.disease ,Isovaleric Acidemia ,Organic acidemia ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,business - Abstract
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. Naive helper T cells and recent thymic emigrants were significantly lower in OAs (p
- Published
- 2021