First Description of Phosphofructokinase Deficiency In Spain: Identification Of A Novel Homozygous Missense Mutation In The PFKM Gene

First Description of Phosphofructokinase Deficiency In Spain: Identification Of A Novel Homozygous Missense Mutation In The PFKM Gene

Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identified in a 65-year-old woman who suffered from life...

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Bibliographic Details
Main Authors: Joan-Lluis eVives Corrons, Pavla eKoralkova, Josep Maria Grau, Maria del Mar Mañú Pereira, Richard eVan Wijk
Format: Article
Language:English
Published: Frontiers Media S.A. 2013-12-01
Series:Frontiers in Physiology
Subjects:
Glycogen Storage Disease
Enzyme Catalysis
Phosphofructokinase deficiency
PFKM Gene
Missense Mutation
Online Access:http://journal.frontiersin.org/Journal/10.3389/fphys.2013.00393/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fphys.2013.00393/full

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