Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive hereditary disease which usually presents as lethal hyperammonemia. Here we report the case of a newborn infant with lethal hyperammonemia. Blood liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis showed increased concentrations of alanine, glutamine and histidine. Urine gas chromatography-mass spe...

Hyperammonemic encephalopathy (he) is a rare complication of malignancy and chemotherapy. Although the cause of he is unclear, a functional arginine deficiency secondary to increased catabolism has been suggested as a possible mechanism. Either that deficiency or an undetermined metabolite could lead to inhibition of N-acetylglutamate synthase (nags), a urea cycle enzyme, resulting in hyperammo...

Nutritional deficiency of folate and its further depletion with chemotherapy is common in children with ALL, especially in countries with high prevalence of malnutrition and lack of folate fortification [2]. Despite a documented higher infection-related deaths during induction, and interruption of maintenance chemotherapy in folate deficient children, the theoretical concern of increased relaps...

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...