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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主要な著者:	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
フォーマット:	Artigo
言語:	Inglês
出版事項:	Elsevier 2022-06-01
シリーズ:	Molecular Genetics and Metabolism Reports
主題:	Long-chain 3-keto-acyl CoA thiolase (LCKAT) Fatty acid oxidation disorder HADHB Cardiomyopathy MTP Ketones
オンライン･アクセス:	http://www.sciencedirect.com/science/article/pii/S2214426922000337
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