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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Autores principales: | , , , |
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Formato: | Articulo |
Lenguaje: | Inglés |
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1998
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Acceso en línea: | http://sedici.unlp.edu.ar/handle/10915/132731 |
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I19-R120-10915-132731 |
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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 |
work_keys_str_mv |
AT demeirleirl pyruvatedehydrogenasee1adeficiencyinafamilydifferentclinicalpresentationintwosiblings AT specolanorma pyruvatedehydrogenasee1adeficiencyinafamilydifferentclinicalpresentationintwosiblings AT senecasara pyruvatedehydrogenasee1adeficiencyinafamilydifferentclinicalpresentationintwosiblings AT lissenswilly pyruvatedehydrogenasee1adeficiencyinafamilydifferentclinicalpresentationintwosiblings |
bdutipo_str |
Repositorios |
_version_ |
1764820454279741440 |