Carbonic anhydrase VA deficiency due to a novel CA5A variant

Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal recessive inborn error of metabolism characterized by variable neonatal onset metabolic acidosis, hyperammonemia, lactic acidosis, and ketonuria. To date, there have been 41 cases of CA-VA deficiency described in the literature. Here, we r...

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Bibliografski detalji

Glavni autori:	Laura Keehan, Elizabeth Null, Lekha Chilakamarri, Christopher Carter, Chung Lee, Gregory M. Enns, Dena R. Matalon
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2025-12-01
Serija:	Molecular Genetics and Metabolism Reports
Teme:	Carbonic anhydrase VA deficiency CA-VA deficiency CA5A Hyperammonemia Lactic acidosis
Online pristup:	http://www.sciencedirect.com/science/article/pii/S2214426925000746
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