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

Nitzan Abelson, Eyal Kristal, Eli Hershkovitz, Ohad Wormser, Vadim Dolgin, Shirly Amar, Orna Staretz-Chacham

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Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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7 authors.

Nitzan AbelsonPediatrics 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.ORCID 0009-0002-6245-887X

Eyal KristalPediatric Day Hospitalization Unit, The Cheryl and Haim Saban Children's Hospital, Soroka University Medical Center, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel.ORCID 0000-0002-8275-3633

Eli HershkovitzPediatrics Department D, The Cheryl and Haim Saban Children's Hospital, Soroka University Medical Center, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel.ORCID 0000-0003-1624-1960

Ohad WormserThe Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel.

Vadim DolginThe Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel.ORCID 0000-0001-8265-6588

Shirly AmarGenetics Institute, Soroka University Medical Center, P.O. Box 151, Beer Sheva 84101, Israel.

Orna Staretz-ChachamThe Center for Rare Diseases, The Cheryl and Haim Saban Children's Hospital, Soroka University Medical Center, Ben-Gurion University, P.O. Box 151, Beer Sheva 84101, Israel.ORCID 0000-0001-6975-4909

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Carbonic anhydrase VA (CA5A) deficiency (OMIM 615751) is an ultra-rare inborn error of metabolism, presenting in newborns, infants, and young children with a pentad of encephalopathy, hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia. We present two cases: a case of a healthy Bedouin infant admitted with hyperammonemic encephalopathy that required urgent hemodialysis, and her younger sibling, who presented with a milder episode. Molecular analysis confirmed the diagnosis of CA5A deficiency due to a homozygous missense variant in the

Indexed as

Carbonic Anhydrase VArabsFemaleHumansHyperammonemiaInfantInfant, NewbornIsraelMutation, MissenseCarbonic Anhydrase Vcarbonic anhydrase VA (CA5A) deficiencyencephalopathyhyperammonemiaketonurialactic acidosis

Identifiers

PMID42194994

DOI10.3390/genes17050537

PMCPMC13205713

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