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Article

A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.

American journal of medical genetics. Part A - 1 Nov 2024

Mathew Rohan Peter, Ranya Raghavendra Prashanth, Disha Biradar, Dalal Ashwin, Govindaraj Periyasamy

Abstract excerpt

Carbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO2 to bicarbonate. Mutations in CA5A are very rare and known to cause Carbonic anhydrase 5A deficiency (CA5AD), an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. CA5A also has two very...

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Identifiers

PMID: 38949089
DOI: 10.1002/ajmg.a.63809

Genes

CA5A

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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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