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, sa.10, ss.1349-1352, 2020 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 10
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2020-0117
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1349-1352
  • Süleyman Demirel Üniversitesi Adresli: Evet

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.