B Lymphocytes Number and Function in Pediatric Patients with Methylmalonic or Propionic Acidemia

Abstract

Organic acidemias are an important class of inherited metabolic disorders characterized by increased excretion of organic acids in urine, resulting from deficiencies of specific enzymes in the breakdown pathways of amino acids, fatty acids or carbohydrates, leading to accumulation of organic acids in tissues and their subsequent excretion in urine. The methyl malonic academia (MMA) and propionic acidemia (PA) are among the most popular forms of organic acidemia and there are few reports about their association with immunodeficiency. This study aims to investigate humoral immune system (B cell number and function) in pediatric patients with methylmalonic or propionic acidemia and its relation to predisposition to infection. Our study comprised 30 patients diagnosed as