SCIENTIFIC BACKGROUND

PCCA, PCCB

Propionic acidemia is a rare autosomal recessive metabolic disease belonging to the group of organoacidopathies. The disease is caused by a deficiency of the enzyme propionyl-CoA carboxylase due to pathogenic variants in the genes of the alpha and beta subunits (PCCA, PCCB) of the enzyme. This impairs the conversion of propionyl-CoA to methylmalonyl-CoA and leads to an accumulation of propionyl-CoA and its metabolites, some of which are detectable in blood and urine. The increased concentration of propionyl-CoA leads to excessive binding of coenzyme A, which disrupts various metabolic pathways in the mitochondria.

 

Symptoms are similar to those of methylmalonic aciduria (ketoacidotic coma, hyperammonemia, convulsions) and usually occur soon after birth. Later onset includes muscle hypotonia, digestive disturbances, recurrent comatose states, and mental retardation. Furthermore, in addition to acute metabolic derangements, neurological symptoms, cardiomyopathies, and acute pancreatitis are additional complications of enzyme deficiency. The spectrum of symptoms is wide-ranging and can affect a wide variety of organ systems. Diagnosis is made by laboratory chemistry tests, and genetic testing is used to confirm a suspected diagnosis.

 

References

Shchelochkov  et al. 2012  [Updated 2016 Oct 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019

GENES

PCCA, PCCB

ASSOCIATED TESTS

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