Propionic acidaemia (PA)

Alternative name Propionyl-CoA carboxylase (PCC) deficiency
About the condition PA is an organic acid disorder. It is a hereditary disease that is caused by a missing enzyme needed to convert protein into energy.
Inheritance Autosomal recessive
Year screening started in WA 2005 
Incidence in Australia Currently unknown
Enzyme defect
  • Deficiency of the enzyme propionyl-CoA carboxylase
  • May be seen as part of multiple carboxylase deficiency
Symptoms if untreated
  • Episodic ketoacidosis
  • Hyperammonaemia
  • Vomiting, feeding problems
  • Cytopaenia
  • Cardiomyopathy
  • Seizures, intellectual diasability
  • Coma and death possible
  • Later-onset and milder forms occur
Metabolites on bloodspot screening
  • Increased propionylcarnitine (C3)
  • Increased methylcitrate (second-tier test)
Diagnostic tests
  • Plasma acylcarnitine profile
  • Urine organic acids
  • PCCA and PCCB gene analysis
Treatment
  • Low-protein diet
  • Carnitine supplementation
  • Biotin supplementation
  • Avoidance of fasting
Screening issues None