Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy


Olgac A., Kasapkara C. S. , Kilic M., Keskin E. Y. , SANDAL G. , Cram D. S. , ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.10, pp.1349-1352, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 10
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2020-0117
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.1349-1352

Abstract

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.