Hyperammonemia due to propionic acidemia

Hyperammonemia due to propionic acidemia is a critical metabolic complication characterized by pathologically elevated serum ammonia levels arising secondary to propionic acidemia, a rare autosomal recessive inborn error of metabolism Clinically, it manifests alongside high anion gap metabolic acidosis and ketosis, presenting as progressive neurotoxicity, lethargy, vomiting, seizures, and potentially irreversible encephalopathy or coma if untreated

Hyperammonemia due to propionic acidemia is a critical metabolic complication characterized by pathologically elevated serum ammonia levels arising secondary to propionic acidemia, a rare autosomal recessive inborn error of metabolism The condition predominantly affects neonates and infants during episodes of acute catabolic stress, directly impacting the central nervous and hepatobiliary systems Pathophysiologically, deficiency in the mitochondrial enzyme propionyl-CoA carboxylase leads to an a...

The condition predominantly affects neonates and infants during episodes of acute catabolic stress, directly impacting the central nervous and hepatobiliary systems

Pathophysiologically, deficiency in the mitochondrial enzyme propionyl-CoA carboxylase leads to an accumulation of propionyl-CoA and propionate metabolites, which impair hepatic urea synthesis through the secondary inhibition of N-acetylglutamate synthase and carbamoyl phosphate synthetase 1 Clinically, it manifests alongside high anion gap metabolic acidosis and ketosis, presenting as progressive neurotoxicity, lethargy, vomiting, seizures, and potentially irreversible encephalopathy or coma if...

Clinically, it manifests alongside high anion gap metabolic acidosis and ketosis, presenting as progressive neurotoxicity, lethargy, vomiting, seizures, and potentially irreversible encephalopathy or coma if untreated