propionic acidaemia
Last reviewed 01/2018
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
Contributor of propionic acidaemia: Dr Andrew Jones (September 2010)
Reference
- 1) British Inherited Metabolic Diseases Group: www.bimdg.org.uk
- 2) A Clinical Guide To Inherited Metabolic Diseases, Third Edition, JTR Clarke, Cambridge University Press
- 3) Clinical Chemistry, Fourth Edition, William J Marshall, Mosby
- http://emedicine.medscape.com/article/948084-overview