Propionic acidemia

Disease Export to PDF
Name:
Propionic acidemia
Description:
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
ORPHAcode:
35
Synonyms:
Ketotic hyperglycinemia
Propionic aciduria
Propionyl-CoA carboxylase deficiency
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14