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

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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Main Authors: de Boer, L. (Author), de Vries, M.C (Author), Denis, S. (Author), Derks, T.G.J (Author), Ferdinandusse, S. (Author), Fuchs, S.A (Author), Garrelfs, M.R (Author), Geurtzen, R. (Author), Houtkooper, R.H (Author), Huigen, M.C.D.G (Author), Kluijtmans, L.A.J (Author), Schwantje, M. (Author), Udink ten Cate, F.E.A (Author), van Karnebeek, C.D.M (Author), van Wegberg, A.M.J (Author), Veenvliet, A.R.J (Author), Wanders, R.J.A (Author)
Format: Article
Language:English
Published: Elsevier Inc. 2022
Subjects:
Cardiomyopathy
Fatty acid oxidation disorder
HADHB
Ketones
Long-chain 3-keto-acyl CoA thiolase (LCKAT)
MTP
Resveratrol
Speckle-echocardiography
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