Related Experiment Video

Updated: May 28, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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Published on: April 4, 2018

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in

Nitzan Abelson1, Eyal Kristal2, Eli Hershkovitz3

  • 1Pediatrics Department A, The Cheryl and Haim Saban Children's Hospital, Soroka University Medical Center, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel.

Genes
|May 27, 2026
PubMed

Insights

Carbonic anhydrase VA (CA5A) deficiency is a rare metabolic disorder. Early diagnosis and treatment of this condition in infants are crucial for favorable developmental outcomes.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Carbonic anhydrase VA (CA5A) deficiency is an ultra-rare inherited metabolic disorder.
  • It presents in infants and young children with severe symptoms including encephalopathy, hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia.

Keywords:
carbonic anhydrase VA (CA5A) deficiencyencephalopathyhyperammonemiaketonurialactic acidosis

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