Key result
A novel homozygous missense variant in CA5A was identified in a newborn female, expanding the biochemical findings and ancestral diversity of CA-VA deficiency.
Case Report (n=1)
This case report expands the known genetic and ancestral diversity of Carbonic anhydrase VA deficiency by describing a novel CA5A variant.
Alerts clinicians to CA-VA deficiency in neonates with unexplained acidosis; extends known CA5A variants but leaves genotype-phenotype correlations open.
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.
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Keehan et al. (2025) conducted a case report in Carbonic anhydrase VA (CA-VA) deficiency (n=1). Novel homozygous missense variant in CA5A was evaluated on Clinical history and biochemical laboratory findings. A novel homozygous missense variant in CA5A was identified in a newborn female, expanding the biochemical findings and ancestral diversity of CA-VA deficiency.
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