JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.10, pp.1349-1352, 2020 (Journal Indexed in SCI)
Article / Article
Title of Journal :
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Objectives: Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene.