Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy

We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid β-oxidation. Long-chain and very long-chain 3-hydroxyacy...

Descripción completa

Detalles Bibliográficos
Autores principales: Marcì, Marcello, Ajovalasit, Patrizia
Formato: Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796442/
https://www.ncbi.nlm.nih.gov/pubmed/20049317
http://dx.doi.org/10.4061/2009/281389
_version_ 1782175531543822336
author Marcì, Marcello
Ajovalasit, Patrizia
author_facet Marcì, Marcello
Ajovalasit, Patrizia
author_sort Marcì, Marcello
collection PubMed
description We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid β-oxidation. Long-chain and very long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficits are recognized as responsible of hypertrophic or, less frequently, dilated cardiomyopathy (CMP) in childhood. Otherwise, to our knowledge, no case of MCADD associated to dilated CMP has been reported in literature.
format Text
id pubmed-2796442
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher SAGE-Hindawi Access to Research
record_format MEDLINE/PubMed
spelling pubmed-27964422010-01-04 Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy Marcì, Marcello Ajovalasit, Patrizia Cardiol Res Pract Case Report We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid β-oxidation. Long-chain and very long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficits are recognized as responsible of hypertrophic or, less frequently, dilated cardiomyopathy (CMP) in childhood. Otherwise, to our knowledge, no case of MCADD associated to dilated CMP has been reported in literature. SAGE-Hindawi Access to Research 2009 2009-12-16 /pmc/articles/PMC2796442/ /pubmed/20049317 http://dx.doi.org/10.4061/2009/281389 Text en Copyright © 2009 M. Marcì and P. Ajovalasit. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Marcì, Marcello
Ajovalasit, Patrizia
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy
title Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy
title_full Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy
title_fullStr Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy
title_full_unstemmed Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy
title_short Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy
title_sort medium-chain acyl-coa dehydrogenase deficiency in an infant with dilated cardiomyopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796442/
https://www.ncbi.nlm.nih.gov/pubmed/20049317
http://dx.doi.org/10.4061/2009/281389
work_keys_str_mv AT marcimarcello mediumchainacylcoadehydrogenasedeficiencyinaninfantwithdilatedcardiomyopathy
AT ajovalasitpatrizia mediumchainacylcoadehydrogenasedeficiencyinaninfantwithdilatedcardiomyopathy

Ejemplares similares