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-years-old woman who suffered from lif...

Descripción completa

Detalles Bibliográficos
Autores: Vives i Corrons, Joan Lluís, Koralkova, Pavla, Grau Junyent, Josep M. (Josep Maria), Mañú Pereira, María del Mar, Wijk, Richard van
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/138697
Acceso en línea:https://hdl.handle.net/2445/138697
Access Level:acceso abierto
Palabra clave:Errors congènits del metabolisme
Malalties hereditàries
Inborn errors of metabolism
Genetic diseases
id ES_9f1cd8ff7f95077ee204cede9873cf09
oai_identifier_str oai:diposit.ub.edu:2445/138697
network_acronym_str ES
network_name_str España
repository_id_str
spelling First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM geneVives i Corrons, Joan LluísKoralkova, PavlaGrau Junyent, Josep M. (Josep Maria)Mañú Pereira, María del MarWijk, Richard vanErrors congènits del metabolismeMalalties hereditàriesInborn errors of metabolismGenetic diseasesPhosphofructokinase 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-years-old woman who suffered from lifelong intermittent muscle weakness and painful spasms of random occurrence, episodic dark urines, and slight haemolytic anemia. After ruling out the most common causes of chronic haemolytic anemia, the study of a panel of 24 enzyme activities showed a markedly decreased PFK activity in red blood cells (RBCs) from the patient. DNA sequence analysis of the PFKM gene subsequently revealed a novel homozygous mutation: c.926A>G; p.Asp309Gly. This mutation is predicted to severely affect enzyme catalysis thereby accounting for the observed enzyme deficiency. This case represents a prime example of classical PFK deficiency and is the first reported case of this very rare red blood cell disorder in Spain.Frontiers Media2013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/138697Articles publicats en revistes (Medicina)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.3389/fphys.2013.00393Frontiers in Physiology, 2013, vol. 4https://doi.org/10.3389/fphys.2013.00393cc-by (c) Vives i Corrons, Joan Lluís et al., 2013http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1386972026-05-27T06:46:51Z
dc.title.none.fl_str_mv First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
title First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
spellingShingle First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
Vives i Corrons, Joan Lluís
Errors congènits del metabolisme
Malalties hereditàries
Inborn errors of metabolism
Genetic diseases
title_short First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
title_full First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
title_fullStr First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
title_full_unstemmed First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
title_sort First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
dc.creator.none.fl_str_mv Vives i Corrons, Joan Lluís
Koralkova, Pavla
Grau Junyent, Josep M. (Josep Maria)
Mañú Pereira, María del Mar
Wijk, Richard van
author Vives i Corrons, Joan Lluís
author_facet Vives i Corrons, Joan Lluís
Koralkova, Pavla
Grau Junyent, Josep M. (Josep Maria)
Mañú Pereira, María del Mar
Wijk, Richard van
author_role author
author2 Koralkova, Pavla
Grau Junyent, Josep M. (Josep Maria)
Mañú Pereira, María del Mar
Wijk, Richard van
author2_role author
author
author
author
dc.subject.none.fl_str_mv Errors congènits del metabolisme
Malalties hereditàries
Inborn errors of metabolism
Genetic diseases
topic Errors congènits del metabolisme
Malalties hereditàries
Inborn errors of metabolism
Genetic diseases
description 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-years-old woman who suffered from lifelong intermittent muscle weakness and painful spasms of random occurrence, episodic dark urines, and slight haemolytic anemia. After ruling out the most common causes of chronic haemolytic anemia, the study of a panel of 24 enzyme activities showed a markedly decreased PFK activity in red blood cells (RBCs) from the patient. DNA sequence analysis of the PFKM gene subsequently revealed a novel homozygous mutation: c.926A>G; p.Asp309Gly. This mutation is predicted to severely affect enzyme catalysis thereby accounting for the observed enzyme deficiency. This case represents a prime example of classical PFK deficiency and is the first reported case of this very rare red blood cell disorder in Spain.
publishDate 2013
dc.date.none.fl_str_mv 2013
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/138697
url https://hdl.handle.net/2445/138697
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.3389/fphys.2013.00393
Frontiers in Physiology, 2013, vol. 4
https://doi.org/10.3389/fphys.2013.00393
dc.rights.none.fl_str_mv cc-by (c) Vives i Corrons, Joan Lluís et al., 2013
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Vives i Corrons, Joan Lluís et al., 2013
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869414882814722048
score 15,300719

Similares en LA Referencia