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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):J Inborn Errors Metab Screen. (Journal of Inborn Errors of Metabolism and Screening)
Publishing Institution:Hochschule Bonn-Rhein-Sieg
Date of first publication:2018/04/27
This article is distributed under the terms of the Creative Commons Attribution 4.0 License.
Tag: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)
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