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Updated: Jun 22, 2025

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

Rohan Peter Mathew1,2, Prashanth Ranya Raghavendra3, Biradar Disha1,4

  • 1BRIC-Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

American Journal of Medical Genetics. Part A
|July 1, 2024
PubMed

Keywords:
CA5Acompound heterozygoushyperammonemiamitochondrial geneticspseudogene

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