Propionic acidaemia

Propionic acidaemia (also known as propionic aciduria, propionyl-CoA carboxylase deficiency or ketotic glycinemia)

• is an inborn error in organic acid metabolism caused by absence of the enzyme propionyl coenzyme A carboxylase (PCC)
• most commonly presents as an acute encephalopathic illness in the neonatal period and is characterised by the findings of metabolic acidosis and hyperammonaemia
• inheritance is autosomal recessive, and gene loci have been identified on chromosomes 3 and 13

Reference

1. Venditti C et al. Propionic Acidemia. Gene Reviews (internet). May 2012, last update September 2024.