A Neonatal Case With Propionic Acidemia Undergoing Hemodiafiltration

Propionic acidemia (PPA) is an autosomal recessive metabolic disorder caused by propionyl-CoA carboxylase deficiency, leading to accumulation of propionic acid and severe metabolic disturbances.Early recognition and management are crucial to prevent life-threatening complications.We report a 30-day-old male neonate born to consanguineous parents who presented with feeding difficulties, vomiting, lethargy, and convulsions.Laboratory evaluation revealed pancytopenia and severe hyperammonemia.Metabolic workup, including plasma amino acids, tandem mass spectrometry, and urinary organic acids, suggested PPA, which was confirmed by a homozygous c.2003G>A mutation.The patient underwent emergency continuous venovenous haemodiafiltration (CVVHDF), resulting in rapid ammonia reduction, followed by targeted metabolic therapy including carglumic acid, L-carnitine, biotin, and metronidazole.The patient showed clinical improvement and was discharged on the 21 st day.In countries with high rates of consanguinity, organic acidemia should be suspected in neonates who develop lethargy, feeding difficulties, and convulsions within the first days of life, particularly with hyperammonemia.Hemodiafiltration can be a life-saving intervention in severe metabolic crises.