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

Marcello Marcì | Zendy; Patrizia Ajovalasit | Zendy

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

Author(s) -

Marcello Marcì,

Patrizia Ajovalasit

Publication year - 2009

Publication title -

cardiology research and practice

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.437

H-Index - 35

eISSN - 2090-8016

pISSN - 2090-0597

DOI - 10.4061/2009/281389

Subject(s) - dilated cardiomyopathy , medicine , beta oxidation , acyl coa dehydrogenase , cardiomyopathy , dehydrogenase , endocrinology , biochemistry , enzyme , metabolism , chemistry , heart failure

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.

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