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

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), an...

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Detalles Bibliográficos
Autores principales: De Meirleir, L., Spècola, Norma, Seneca, Sara, Lissens, Willy
Formato: Articulo
Lenguaje:Inglés
Publicado: 1998
Materias:
Ciencias Médicas
pyruvate dehydrogenase complex
gene mutation
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/132731
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-132731
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Médicas
pyruvate dehydrogenase complex
gene mutation
spellingShingle Ciencias Médicas
pyruvate dehydrogenase complex
gene mutation
De Meirleir, L.
Spècola, Norma
Seneca, Sara
Lissens, Willy
Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
topic_facet Ciencias Médicas
pyruvate dehydrogenase complex
gene mutation
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.
format Articulo
Articulo
author De Meirleir, L.
Spècola, Norma
Seneca, Sara
Lissens, Willy
author_facet De Meirleir, L.
Spècola, Norma
Seneca, Sara
Lissens, Willy
author_sort De Meirleir, L.
title Pyruvate dehydrogenase E1α deficiency in a family : Different clinical presentation in two siblings
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
publishDate 1998
url http://sedici.unlp.edu.ar/handle/10915/132731
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AT senecasara pyruvatedehydrogenasee1adeficiencyinafamilydifferentclinicalpresentationintwosiblings
AT lissenswilly pyruvatedehydrogenasee1adeficiencyinafamilydifferentclinicalpresentationintwosiblings
bdutipo_str Repositorios
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