Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands
INTRODUCTION: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is included in many newborn screening (NBS) programs. Acylcarnitine-based NBS for LCHADD not only identifies LCHADD, but all different deficiencies of the mitochondrial trifunctional protein (MTP), a multi-enzyme complex involved in long-chain fatty acid β-oxidation. Besides LCHAD, MTP harbors two additional enzyme activities: long-chain enoyl-CoA hydratase (LCEH), and long-chain ketoacyl-CoA thiolase (LCKAT). Deficiency of one or more MTP activities causes generalized MTP deficiency (MTPD), LCHADD, LCEH deficiency (n... Mehr ...
Verfasser: |
Schwantje, Marit
Fuchs, Sabine A
de Boer, Lonneke
Bosch, Annet M
Cuppen, Inge
Dekkers, Eugenie
Derks, Terry G J
Ferdinandusse, Sacha
IJlst, Lodewijk
Houtkooper, Riekelt H
Maase, Rose
van der Pol, W Ludo
de Vries, Maaike C
Verschoof-Puite, Rendelien K
Wanders, Ronald J A
Williams, Monique
Wijburg, Frits
Visser, Gepke |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2022 |
Reihe/Periodikum: |
Schwantje , M , Fuchs , S A , de Boer , L , Bosch , A M , Cuppen , I , Dekkers , E , Derks , T G J , Ferdinandusse , S , IJlst , L , Houtkooper , R H , Maase , R , van der Pol , W L , de Vries , M C , Verschoof-Puite , R K , Wanders , R J A , Williams , M , Wijburg , F & Visser , G 2022 , ' Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 45 , no. 4 , pp. 804-818 . https://doi.org/10.1002/jimd.12502 |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-26825500 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://hdl.handle.net/11370/6b873889-8eb6-4ca7-a595-278290fb35cb |