- pro·pi·on·ic·ac·i·de·mia (pro″pe-on″ik-as″ĭ-deґme-ə) 1. an autosomal recessive aminoacidopathy characterized by an 2. excess of propionic acid in the blood and urine, with ketosis, acidosis, hyperglycinemia, hyperglycinuria, and often neurologic complications. The disorder is caused by mutation in either of the genes encoding the two subunits of propionyl-CoA carboxylase (loci: 13q32, 3q21-q22). excess of propionic acid in the blood, such as that characteristic of multiple carboxylase deficiency.
Medical dictionary. 2011.