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propionic acidemia


Thursday 31 July 2008

Digital cases

- Case 253 : Cirrhosis in propionic acidemia

Definition: Propionic acidemia is a genetic anomaly of the propionic acid metabolism.

The role of a secondary respiratory chain deficiency as an additional mechanism to intoxication, leading to development of long-term energy-dependent complications, has been recently suggested in patients with propionic acidemia (PA). There is a role of secondary respiratory deficiency in the development of late multiorgan complications of these diseases. (19342984, 21329767)

Clinical synopsis

The features of propionic acidemia are episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. Outstanding chemical features are hyperglycinemia and hyperglycinuria.


- cardiomyopathy associated with CoQ(10) and multiple OXPHOS deficiency (19342984)


- propionic acidemia is caused by mutation in the genes encoding

  • propionyl-CoA carboxylase, PCCA (MIM.232000)
  • propionyl-CoA carboxylase, PCCB (MIM.232050).

Cells from patients with mutations in the PCCA gene fall into complementation group pccA. Cells from patients with mutations in the PCCB gene fall into complementation group pccBC.

Mutations in the pccB subgroup occur in the N terminus of the PCCB gene, which includes the biotin-binding site, whereas mutations in the pccC subgroup occur in the C terminus of the PCCB gene.

See also

- propionic acid


- A study of the ultrastructure of the organs and of cultured fibroblasts incubated with isoleucine from a patient with propionic acidemia. Kott-Blumenkranz R, Pappas CT, Bensch KG. Hum Pathol. 1981 Dec;12(12):1141-8. PMID: 7333577