[MIM 215 700]

Prevalence: 1/60,000. Autosomal recessive transmission of a mutation of the SSA gene. Anomaly of the urea cycle.

Citrullinemia type I is a rare disorder of the urea cycle due to arginosuccinate synthetase deficiency. In the neonatal form (acute neonatal citrullinemia type  I), it is characterized by hyperammonemia, food refusal, vomiting, progressive lethargy, and possibly loss of consciousness occurring one to a few days after birth, accompanied by intracranial hypertension of variable degree... In the late-onset form (adult citrullinemia type 1), hyperammonemia is variable.

Anesthetic implications:

management of a pathology of the urea cycle:

-        limit the duration of preoperative fasting: administer an electrolytic glucose-containing solution as soon as the fasting period begins; in case of elective surgery, decrease the protein content in food  24 to 48 hours before the procedure and compensate calories with glucose and lipids;

-        in case of surgery where bloody content may be swallowed (ENT, dentistry), the stomach should be emptied to avoid  hidden protein intake by digestive tract

-        special monitoring: NH3 (nl: < 50 µmol/L or 20-80 µg/dL), glycemia;

-        select a type of anesthesia that decreases the stress response: locoregional blockade, morphine, optimal postoperative analgesia; avoid dexamethasone because it increases protein catabolism; careful use of the antiemetics because they could hide early signs of encephalopathy.

-        promote alternative metabolic pathways and decrease the synthesis of NH4 , with IV Na benzoate (0.25 g/kg/day), Na phenylbutyrate (0.25 g/kg/d) and HCl arginine (0.1 to 0.2 g/kg/d); these solutions can cause hypokalemia

-        in case of hyperammonemia > 3 x normal:  IV glucose 10 or 20% and IV loading dose of Na benzoate (0, 25 g/kg) and Na phenylbutyrate (0, 25 g/kg), HCl arginine (0.2 g/kg) and carnitine (0.2 mg/kg/d) by IV route;

-        in case of failure of above medical treatment: hemofiltration or peritoneal dialysis

References :

-        Gharavifard M, Sabzevari A, Eslami R.
Anesthetic management in a child with citrullinemia : a case report.
Anesth Pain Med 2014; 4:  e21791.

-        Patel H, Kim J, Huncke TK.
General anesthesia in a patient with citrullinemia using Precedex as an adjunct to prevent delayed emergence.
J Clin Anesth 2016; 33: 403-5.

-        Kloesel B, Holzman RS.
Anesthetic management of patients with inborn errors of metabolism.
Anesth Analg 2017; 125: 822-236 

-        Del Rio C, Martin-Hernandez E, Ruiz A, Quijada-Fraille P, Rubio P.
Perioperative management of children with urea cycle disorders.
Pediatr Anesth 2020; 30:780-91.

Updated: September 2020