Document Detail


Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
MedLine Citation:
PMID:  18398624     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONCLUSION: our results encourage the use of amino acid supplementation to overcome the metabolic/biochemical changes induced by PDHA1 gene specific mutations associated with mild PDHc phenotypes.
Authors:
Maria João Silva; Ana Pinheiro; Filomena Eusébio; Ana Gaspar; Isabel Tavares de Almeida; Isabel Rivera
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-04-09
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2008-11-26     Completed Date:  2009-04-28     Revised Date:  2014-07-30    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  17-22     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Arginine / therapeutic use*
Aspartic Acid / therapeutic use*
Blotting, Western
Child
DNA Mutational Analysis
Gene Expression / genetics
Humans
Male
Point Mutation / genetics*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational / genetics
Pyruvate Dehydrogenase (Lipoamide) / genetics*
Pyruvate Dehydrogenase Complex Deficiency Disease / drug therapy*,  genetics*
Chemical
Reg. No./Substance:
30KYC7MIAI/Aspartic Acid; 94ZLA3W45F/Arginine; EC 1.2.4.1/Pyruvate Dehydrogenase (Lipoamide); EC 1.2.4.1/pyruvate dehydrogenase E1alpha subunit; LZB1G2I725/arginine aspartate

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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