Thelansis

Propionic acidemia (PA) is a rare organic aciduria caused by a propionyl Coenzyme A carboxylase deficiency. This condition is characterized by severe metabolic decompensation, neurological dysfunction, and potential complications such as cardiomyopathy. PA can manifest in three distinct forms: severe neonatal onset, intermittent late onset, or a chronic progressive form. In the severe neonatal onset variant, affected infants display symptoms like poor feeding, vomiting, and altered sensorium within hours to weeks after birth. PA results from mutations in the PCCA and PCCB genes, which encode the propionyl CoA carboxylase subunits. Newborn screening tests identify PA through elevated propionyl carnitine levels, and differential diagnosis involves distinguishing it from other conditions like neonatal sepsis and other organic acidurias. In the infantile chronic form, symptoms can mimic those of cow milk intolerance, celiac disease, or immune deficiencies, including failure to thrive, chro...