A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene.

Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal-recessive inborn error of metabolism. It is imperative to consider CA-VA deficiency as a differential diagnosis in neonates with hyperammonemia not attributed to defects in urea cycle enzymes, organic acid disorders, hypoglycemia, and primary hyperlactatemia. The case described in this report had a metabolic crisis on day three of life with biochemical abnormalities demonstrating hypoglycemia, elevated ammonia, and lactate.