ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) is caused by mutations in ECHS1 (OMIM 602292) and is a recently identified inborn error of valine and fatty acid metabolism. This defect leads to secondary mitochondrial dysfunction. The majority of previously reported patients had th...

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Bibliographische Detailangaben

Hauptverfasser:	Ganetzky, Rebecca D., Bloom, Kaitlyn, Ahrens-Nicklas, Rebecca, Edmondson, Andrew, Deardorff, Matthew A., Bennett, Michael J., Ficicioglu, Can
Format:	Buchkapitel
Sprache:	eng
Schlagworte:	Enoyl-CoA hydratase Lactic acidosis Medical genetics Metabolism Mitochondrial disease Paediatric medicine
Online-Zugang:	Volltext
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