Pediatric propionic acidemia

Propionic acidemia is a genetic defect in the catabolism of propionic acid. It is caused by the lack of propionyl CoA carboxylase, which is an autosomal recessive inheritance. It is characterized by repeated episodes of ketoacidosis shortly after birth, neutrophil thrombocytopenia, severe mental retardation, neurological abnormalities, protein intolerance and significantly increased plasma glycine levels. The disease mostly occurs after eating protein, especially a diet rich in branched chain amino acids, methionine and threonine. Patients have a large amount of propionic acid accumulation, impaired propionate oxidation in leukocytes, and carboxylase deficiency in fibroblasts.

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