Propionic  acidaemia

Home

Pages

Diabetes and endocrinology

Add annotation to this page

Authoring team

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)

1) British Inherited Metabolic Diseases Group: 

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

Annotations let you add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. Reflective notes let you add information to the CPD dashboard based on the content of this page: what did you learn from it and how might it change your practice?

Annotations let you add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

Propionic acidaemia

Related pages

Create an account to add page annotations