Carbonic anhydrase VA deficiency due to a novel CA5A variant

Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal recessive inborn error of metabolism characterized by variable neonatal onset metabolic acidosis, hyperammonemia, lactic acidosis, and ketonuria. To date, there have been 41 cases of CA-VA deficiency described in the literature. Here, we report the clinical history and biochemical laboratory findings of a newborn female with a novel homozygous missense variant in CA5A. This case adds to the literature of biochemical findings and ancestral diversity in individuals with CA-VA deficiency.