Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the <i>CA5A</i> Gene

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the <i>CA5A</i> Gene

Hyperammonemia due to carbonic anhydrase VA deficiency (OMIM# 615751) is a rare, life-threatening hereditary disease caused by biallelic mutations in the <i>CA5A</i> gene, presenting as encephalopathic hyperammonemia of unexplained origin during the neonatal period and infancy. Here, we...

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Bibliographic Details
Main Authors: Natalia Semenova, Andrey Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:International Journal of Molecular Sciences
Subjects:
carbonic anhydrase VA deficiency
<i>CA5A</i> gene
hyperammonemia
Online Access:https://www.mdpi.com/1422-0067/23/23/15026

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