Arginase-1 deficiency

[MIM 207 800]

(Hyperargininemia)

Very rare (< 1/1.106), more frequent in the Canadian population of French origin. Autosomal recessive transmission of a mutation of the ARG1 gene (6p23.2). It is one of the stages of the urea cycle: this deficiency leads to a high level of arginine in blood with a risk of hyperammonemia. 

Three clinical forms based on residual enzyme activity:


-        pre-symptomatic: discovery during screening, aversion to foods rich in animal proteins.

-        neonatal: vomiting, convulsions, coma, hyperammonemia with ketosis and hypoglycemia

-        late: delayed psychomotor and growth development, episode of hyperammoniemia with ketosis, coma in case of infection, prolonged fasting, stress, pregnancy (and postpartum), or administration of valproate.


In the absence of treatment, this dysfunction of an enzyme in the urea cycle also carries a risk of spastic quadriparesis associated with the neurological toxicity of arginine and NO. Risk of cerebral edema if the arginine blood levels are significantly elevated. Arginine facilitates the vasodilator effect of NO, which can lead to a low blood pressure.


Treatment: low-protein diet, Na benzoate to decrease NH4 production. The target is a blood level of arginine < 200 µmol/L


Anesthetic implications:

Epilepsy. Same management as other  urea cycle abnormalities

see Ornithine-carbamyl transferase, deficiency

Risk of hypoglycemia and low blood pressure.


References : 

-        Dobbelaere D, Mention K.
Déficits du cycle de lurée.
In Maladies métaboliques héréditaires, éd B Chabrol, P de Lonlay,  Progrès en Pédiatrie n°29, Doin 2011 ; p 139-47

-        Kaul N, Khan RM, Sharma PK, Sumant A. 
Anesthesia in a patient with arginase deficiency : implications and management. 
Pediatr Anesth 2008; 18: 1139-40.

-        Mace H, Srinivas C, Seizner M, Minkovich L.
Anesthetic management of a patient with arginase deficiency undergoing liver transplantation.
A &A Case Reports 2014 ; 3 : 85-7.

-        Kato H, Kawaguchi K, Sawa T.
Anesthetic management of a pediatric patient with arginase-1 deficiency undergoing strabismus operation : a case report.
JA Clinical Reports 2019 ;5 :56

-        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