Inborn Errors of Ketone Body Metabolism and Transport

  • 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
Parent Title (English):Journal of Inborn Errors of Metabolism and Screening
Date of first publication:2018/04/27
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):600 Technik, Medizin, angewandte Wissenschaften / 610 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2018/05/04

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