Introduction: Hyperammonemia occurs as a result of the inability to convert ammonia, metabolic toxin, into urea due block in cycle, and there resulting neurotoxicity is responsible for pathogenesis. Case Presentation: Our patient was 7 days old when followed up an external center 3 with preliminary diagnosis neonatal sepsis. Lethargy, vomiting, tachypnea, convulsions, which are frequently seen ...

Early-onset mitochondrial encephalomyopathy is a rare disorder that presents in the neonatal period with lactic acidosis, hypotonia, and developmental delay. Sequence variants in the nuclear-encoded gene FBXL4 have been previously demonstrated to be a cause of early-onset mitochondrial encephalomyopathy in several unrelated families. We have identified a pair of siblings with mutations in FBXL4...

BACKGROUND Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1. A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high ammonia levels enco...

Acute hyperammonemia is a medical emergency requiring rapid recognition and treatment to prevent devastating neurologic sequelae. Its varying etiologies include primary hepatic failure, drug toxicity, infection, and inherited disorders of metabolism. Ornithine transcarbamylase (OTC) deficiency is the most common inherited urea cycle disorder and can result in hyperammonemic encephalopathy and c...

introduction citrullinemia is a defect in the urea cycle that causes ammonia to accumulate in the blood. we describe the anesthetic management of a patient with citrullinemia, who experienced an unexpected 10 day hospital admission. case presentation we anesthetized a 3.5 year-old boy with citrullinemia who was scheduled for a dentistry procedure. perioperative precautions included minimizing f...