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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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שמור ב:
Principais autores: Laura Keehan, Elizabeth Null, Lekha Chilakamarri, Christopher Carter, Chung Lee, Gregory M. Enns, Dena R. Matalon
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2025-12-01
סדרה:Molecular Genetics and Metabolism Reports
נושאים:
Carbonic anhydrase VA deficiency
CA-VA deficiency
CA5A
Hyperammonemia
Lactic acidosis
גישה מקוונת:http://www.sciencedirect.com/science/article/pii/S2214426925000746
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