Propionic acidemia

hyperglycinemia with ketoacidosis and leukopenia; ketotic glycinemia; ketotic hyperglycinemia; PCC deficiency; propionyl-CoA carboxylase deficiency

Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. Death can occur at anytime due to secondary hyperammonemia, infection due to immune system suppression, cardiomyopathy, or basal ganglial stroke. Incidence Propionic acidemia is inherited in a autosomal recessive pattern and occurs in about 1 in 100,000 live births in the United States. The condition appears to be more comm ...