Proprionic Acidemia

Congenital deficiency of Propionyl-CoA carboxylase unable to convert propionyl CoA into Methylmalonyl CoA, which leads to the accumulation of Propionyl CoA. Propionic acidemia is cliniccally characterized by poor feeding, vomiting, hypotonia, lethargy, dehydration, and an anion gap acidosis.


Catabolism of valine, isoleucine, threonine, methionine, cholesterol, and odd-chained fatty acid leads to the formation of propionic acid....in cases of propionyl CoA deficiency, propionyl coA is unable to convert into methylmalony CoA, therefore Propionyl will accumulates and leads to Propionic acidemia.