Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings

Autores
De Meirleir, L.; Spècola, Norma; Seneca, Sara; Lissens, Willy
Año de publicación
1998
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The pyruvate dehydrogenase (PDH) complex (PDHc) is responsible for the irreversible conversion of pyruvate to acetyl-CoA. PDHc is a multienzyme complex consisting of three catalytic subunits, pyruvate decarboxylase (E1), dihydrolipoamideacetyltransferase (E2), dihydrolipoamide dehydrogenase (E3), and two regulatorysubunits, E1 kinase and phospho-E1 phosphatase. An abnormal E1asubunit, whosegene is located on the X chromosome, is the most frequent cause of PDH deÐciency. The clinical presentation of a PDH-E1adeÐciency (McKusick 312170) is variable.We have analysed a family with a mutation (36 bp insertion in exon 10) in thePDH-E1agene in which the male member had a diferent and less severe clinicalpicture than his afected sister.
Facultad de Ciencias Médicas
Materia
Ciencias Médicas
pyruvate dehydrogenase complex
gene mutation
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by-nc-sa/4.0/
Repositorio
SEDICI (UNLP)
Institución
Universidad Nacional de La Plata
OAI Identificador
oai:sedici.unlp.edu.ar:10915/132731
Acceder
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network_name_str SEDICI (UNLP)
spelling Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblingsDe Meirleir, L.Spècola, NormaSeneca, SaraLissens, WillyCiencias Médicaspyruvate dehydrogenase complexgene mutationThe pyruvate dehydrogenase (PDH) complex (PDHc) is responsible for the irreversible conversion of pyruvate to acetyl-CoA. PDHc is a multienzyme complex consisting of three catalytic subunits, pyruvate decarboxylase (E1), dihydrolipoamideacetyltransferase (E2), dihydrolipoamide dehydrogenase (E3), and two regulatorysubunits, E1 kinase and phospho-E1 phosphatase. An abnormal E1asubunit, whosegene is located on the X chromosome, is the most frequent cause of PDH deÐciency. The clinical presentation of a PDH-E1adeÐciency (McKusick 312170) is variable.We have analysed a family with a mutation (36 bp insertion in exon 10) in thePDH-E1agene in which the male member had a diferent and less severe clinicalpicture than his afected sister.Facultad de Ciencias Médicas1998-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdf224-226http://sedici.unlp.edu.ar/handle/10915/132731enginfo:eu-repo/semantics/altIdentifier/issn/0141-8955info:eu-repo/semantics/altIdentifier/issn/1573-2665info:eu-repo/semantics/altIdentifier/doi/10.1023/a:1005347501111info:eu-repo/semantics/altIdentifier/pmid/9686362info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/4.0/Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-10-22T17:12:41Zoai:sedici.unlp.edu.ar:10915/132731Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-10-22 17:12:41.464SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
title Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
spellingShingle Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
De Meirleir, L.
Ciencias Médicas
pyruvate dehydrogenase complex
gene mutation
title_short Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
title_full Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
title_fullStr Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
title_full_unstemmed Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
title_sort Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
dc.creator.none.fl_str_mv De Meirleir, L.
Spècola, Norma
Seneca, Sara
Lissens, Willy
author De Meirleir, L.
author_facet De Meirleir, L.
Spècola, Norma
Seneca, Sara
Lissens, Willy
author_role author
author2 Spècola, Norma
Seneca, Sara
Lissens, Willy
author2_role author
author
author
dc.subject.none.fl_str_mv Ciencias Médicas
pyruvate dehydrogenase complex
gene mutation
topic Ciencias Médicas
pyruvate dehydrogenase complex
gene mutation
dc.description.none.fl_txt_mv The pyruvate dehydrogenase (PDH) complex (PDHc) is responsible for the irreversible conversion of pyruvate to acetyl-CoA. PDHc is a multienzyme complex consisting of three catalytic subunits, pyruvate decarboxylase (E1), dihydrolipoamideacetyltransferase (E2), dihydrolipoamide dehydrogenase (E3), and two regulatorysubunits, E1 kinase and phospho-E1 phosphatase. An abnormal E1asubunit, whosegene is located on the X chromosome, is the most frequent cause of PDH deÐciency. The clinical presentation of a PDH-E1adeÐciency (McKusick 312170) is variable.We have analysed a family with a mutation (36 bp insertion in exon 10) in thePDH-E1agene in which the male member had a diferent and less severe clinicalpicture than his afected sister.
Facultad de Ciencias Médicas
description The pyruvate dehydrogenase (PDH) complex (PDHc) is responsible for the irreversible conversion of pyruvate to acetyl-CoA. PDHc is a multienzyme complex consisting of three catalytic subunits, pyruvate decarboxylase (E1), dihydrolipoamideacetyltransferase (E2), dihydrolipoamide dehydrogenase (E3), and two regulatorysubunits, E1 kinase and phospho-E1 phosphatase. An abnormal E1asubunit, whosegene is located on the X chromosome, is the most frequent cause of PDH deÐciency. The clinical presentation of a PDH-E1adeÐciency (McKusick 312170) is variable.We have analysed a family with a mutation (36 bp insertion in exon 10) in thePDH-E1agene in which the male member had a diferent and less severe clinicalpicture than his afected sister.
publishDate 1998
dc.date.none.fl_str_mv 1998-06-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Articulo
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/132731
url http://sedici.unlp.edu.ar/handle/10915/132731
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/0141-8955
info:eu-repo/semantics/altIdentifier/issn/1573-2665
info:eu-repo/semantics/altIdentifier/doi/10.1023/a:1005347501111
info:eu-repo/semantics/altIdentifier/pmid/9686362
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
dc.format.none.fl_str_mv application/pdf
224-226
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
instacron:UNLP
reponame_str SEDICI (UNLP)
collection SEDICI (UNLP)
instname_str Universidad Nacional de La Plata
instacron_str UNLP
institution UNLP
repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
repository.mail.fl_str_mv alira@sedici.unlp.edu.ar
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