| propionicacidemia |
1. an autosomal recessive aminoacidopathy characterized by an excess of propionic acid in the blood and urine, with ketosis, acidosis, hyperglycinemia, hyperglycinuria, and often neurologic complications. The disorder is caused by deficiency of propionyl-CoA carboxylase activity due to defects in either subunit of the carboxylase; the term sometimes denotes also deficiency of this enzyme due to multiple carboxylase deficiency (see under carboxylase). 2. excess of propionic acid in the blood.
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