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 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…