Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

Isolated long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency is a rare long-chain fatty acid oxidation disorder caused by mutations in HADHB. LCKAT is part of a multi-enzyme complex called the mitochondrial trifunctional protein (MTP) which catalyzes the last three steps in the long-chain fatty a...

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Главные авторы:	Annemarijne R.J. Veenvliet, Mark R. Garrelfs, Floris E.A. Udink ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A. Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M.J. van Wegberg, Marleen C.D.G. Huigen, Leo A.J. Kluijtmans, Ronald J.A. Wanders, Terry G.J. Derks, Lonneke de Boer, Riekelt H. Houtkooper, Maaike C. de Vries, Clara D.M. van Karnebeek
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Elsevier 2022-06-01
Серии:	Molecular Genetics and Metabolism Reports
Предметы:	Long-chain 3-keto-acyl CoA thiolase (LCKAT) Fatty acid oxidation disorder HADHB Cardiomyopathy MTP Ketones
Online-ссылка:	http://www.sciencedirect.com/science/article/pii/S2214426922000337
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