Ornithine Carbamoyltransferase Deficiency
Ornithine carbamoyltransferase deficiency (OTC deficiency) is a rare X-linked urea cycle disorder resulting from a mutation in the OTC gene, which encodes the mitochondrial enzyme
hyperammonemia
Hyperammonemia Due to Propionic Acidemia
Hyperammonemia due to propionic acidemia (PA) is a severe metabolic condition resulting from the accumulation of ammonia in the bloodstream. Propionic acidemia is a rare
Hyperammonemia Due to Methylmalonic Acidemia
Hyperammonemia due to methylmalonic acidemia (MMA) is a rare yet serious metabolic disorder characterized by elevated ammonia levels in the blood. This condition arises from
Hyperammonemia Associated with N-Acetylglutamate
N-Acetylglutamate Synthase (NAGS) deficiency is a rare autosomal recessive metabolic disorder that disrupts the urea cycle. This condition results in the accumulation of ammonia in
Hyperammonemia: Causes, Symptoms
Hyperammonemia is a metabolic disorder characterized by elevated ammonia levels in the blood. Ammonia, a byproduct of amino acid metabolism, is typically converted to urea
Citrullinemia
Citrullinemia is a rare autosomal recessive disorder characterized by the accumulation of ammonia and other toxic substances in the blood. This condition arises from defects
Carbamoyl phosphate synthetase deficiency
Carbamoyl phosphate synthetase deficiency (CPS1 deficiency) is a rare genetic disorder that disrupts the urea cycle, leading to an inability to effectively eliminate ammonia from