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Article

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2016

Diez-Fernandez Carmen, Rüfenacht Véronique, Santra Saikat, Lund Allan M, Santer René, Lindner Martin, Tangeraas Trine, Unsinn Caroline, de Lonlay Pascale, Burlina Alberto, van Karnebeek Clara D M, Häberle Johannes

Abstract excerpt

PURPOSE: Four mitochondrial metabolic liver enzymes require bicarbonate, which is provided by the carbonic anhydrase isoforms VA (CAVA) and VB (CAVB). Defective hepatic bicarbonate production leads to a unique combination of biochemical findings: hyperammonemia, elevated lactate and ketone bodies, metabolic acidosis, hypoglycemia, and excretion of carboxylase substrates. This study aimed to test for CAVA or CAVB...

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Identifiers

PMID: 26913920
DOI: 10.1038/gim.2015.201

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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