Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency

Red cell pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia and the most frequent enzyme abnormality of the glycolytic pathway. To the best of our knowledge, this is the first Korean PK deficiency study that analyzes copy number variation (CNV) usi...

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Bibliographic Details
Main Authors: Minsun Kim, Seung Yeob Lee, Namsu Kim, Jaehyeon Lee, Dal Sik Kim, Joonhong Park, Yong Gon Cho
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Pediatrics
Subjects:
pyruvate kinase deficiency
PK enzyme activity
PKLR exon deletion
p.Gly536Asp
next-generation sequencing
copy number variation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1022980/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.1022980/full

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