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...

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...

BACKGROUND Citrullinemia is been reported as a quantitative parameter of the enterocyte mass and function. AIM The objective of this research is to analyse the value of fasting and stimulated citrullinemias in the intestinal function evaluation. METHODS A case-control study was undertaken, including 11 patients with short bowel syndrome, 13 patients submitted to malabsorptive bariatric surg...

Citrullinemia is a rare autosomal recessive inborn error of the urea cycle due to a deficiency in argininosuccinic acid synthetase. We present two cases of the infantile form of citrullinemia in which CT revealed bilateral and symmetric corticosubcortical hypoattenuating areas, ulegyric changes, and atrophy in the frontal lobes, as well as atrophy in the gyrus cinguli, insulae, and temporal lobes.

BACKGROUND Citrullinemia type II is an autosomal recessive urea cycle disorder and a subtype of citrin deficiency. However, the management of recurrent hyperammonemia with neurologic symptoms in patients with citrullinemia type II is quite different from the management of other types of urea cycle disorders. In pats with citrullinemia type II, regional anesthesia might be a good choice for the ...

BACKGROUND Small-bowel dysfunction exerts a relevant prognostic impact in the critically ill patients. Citrullinemia has been used in the evaluation of the intestinal function and it is considered an objective parameter of the functional enterocyte mass. Present study proposes to determine the intestinal dysfunction prevalence and the citrullinemia kinetic profile in severe trauma patients and ...

Adult-onset type II citrullinemia (CTLN2) is a disorder caused by an inborn error of metabolism affecting the liver. CTLN2 is an autosomal recessive disorder characterized by recurrent encephalopathy with hyperammonemia due to highly elevated plasma levels of citrulline and ammonia, caused by a deficiency of argininosuccinate synthetase in the liver. A small number of patients have undergone li...

SUMMARY Urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity of the enzymes involved in urea synthesis. Localized short-TE proton MR spectroscopy, performed in two infants who had citrullinemia and ornithine transcarbamylase deficiency, respectively, showed a prominent increase of glutamine/glutamate and lipid/lactate complex in both cases. N-acetylaspartat...