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. , ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, ss.1349-1352, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 33 Konu: 10
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2020-0117
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.1349-1352

Özet

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.