Propionic Acidemia
Propionic acidemia is one of the inherited metabolic disorders (DMT). Specifically, it ranks among organic acidurias. It is autosomal recessive in nature where there is a defect in propionyl-CoA carboxylase (either A or B subunits).
Pathophysiologically, there is a propionyl-CoA carboxylase deficiency which impairs the conversion of propionyl-CoA to methylmalonyl-CoA which thereby leads to an accummulation of the former and loss of the latter. The excess Propionyl-CoA is then converted into propionic acid which accumulates in the serum and urine
Clinically, the disease occurs in the neonatal period with vomiting, poor feeding, lethargy, seizures, hyptonia, hepatomegaly, developmental delays and even failure to thrive. Death may occur if treatment is not administered
The incidence of Propionic Acidemia is 1/100,000.
Laboratory findings[edit | edit source]
During an acute attack, there is ketoacidosis with ketonuria, hyperammonemia and pancytopenia.
Treatment[edit | edit source]
During an acute attack, it is necessary to use elimination methods and glucose administration. In the long term, it is necessary to follow a low-protein diet with the supply of AMK (up to valine) and also the administration of ATB (metronidazole) to prevent intestinal colonization. In more severe forms, liver transplantation is indicated. Template: Complete the resource
