Article
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene
International journal of molecular sciences - 30 Nov 2022
Semenova Natalia, Marakhonov Andrey, Ampleeva Maria, Kurkina Marina, Baydakova Galina, Skoblov Mikhail, Taran Natalia, Babak Olga, Shchukina Ekaterina, Strokova Tatyana
Abstract excerpt
Hyperammonemia due to carbonic anhydrase VA deficiency (OMIM# 615751) is a rare, life-threatening hereditary disease caused by biallelic mutations in the CA5A gene, presenting as encephalopathic hyperammonemia of unexplained origin during the neonatal period and infancy. Here, we present a detailed description of a 5-year-old patient with the homozygous mutation p.Lys185Lys (c.555G>A) in the CA5A gene. This...
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