CA-VA, deficiency in

[MIM 615 751]

(encephalopathy due to hyperammonemia by carbonic anhydrase VA deficiency)

Prevalence < 1.106. Autosomal recessive transmission of a mutation of the CA5A (16q24.2) gene, coding for carbonic anhydrase CA. This enzyme transforms HCO3 into CO2 to allow its entry into the mitochondria to enter the cycle of urea (see this term) in the liver. It presents as an acute encephalopathy in the neonatal period or early childhood with hyperammonemia, hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. This metabolic crisis responds quickly to the symptomatic treatment of hyperammonemia.

Treatment: carglumic acid orally, 100 mg/kg every 4-6 hours in case of crisis.


Anesthetic implications:

avoid hypoglycemia and protein catabolism as in case of anomaly of the urea cycle. Preventive treatment with carglumic acid ?


References :

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Updated: November 2018