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Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories

  • Major progress occurred in understanding inborn errors of ketone body transport and metabolism between the International Congresses on Inborn Errors of Metabolism in Barcelona (2013) and Rio de Janeiro (2017). These conditions impair either ketogenesis (presenting as episodes of hypoketotic hypoglycemia) or ketolysis (presenting as ketoacidotic episodes); for both groups, immediate intravenous glucose administration is the most critical and (mHGGCS, HMGCS2) effective treatment measure.

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Document Type:Article
Author:Jörn Oliver Sass, Toshiyuki Fukao, Grant A. Mitchell
Parent Title (English):Journal of Inborn Errors of Metabolism and Screening
First Page:1
Last Page:7
Publishing Institution:Hochschule Bonn-Rhein-Sieg
Date of first publication:2018/04/27
Copyright:This article is distributed under the terms of the Creative Commons Attribution 4.0 License.
Funding:Research of J. O. Sass in the ketone body field is supported by the program “FH Zeit für Forschung 2016” by the Ministry of Culture and Science of the German State of North Rhine-Westphalia (KETOplus, 005-1703-0016). Research of T. Fukao was supported in part by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan (grant numbers 16K09962); Health and Labour Science Research Grants for Research on Intractable Diseases from the Ministry of Health, Labour and Welfare of Japan; and the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development (AMED) under Grant Number JP17ek0109276.
Keyword:3-hydroxy-n-butyric acid; MCT; SLC; acetoacetic acid; acetone; isoleucine; ketogenesis; ketolysis; leucine; organic aciduria
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Projects:KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/05/04
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International