@article{SassFukaoMitchell2018, author = {Sass, J{\"o}rn Oliver and Fukao, Toshiyuki and Mitchell, Grant A.}, title = {Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories}, journal = {Journal of Inborn Errors of Metabolism and Screening}, volume = {6}, issn = {2326-4098}, doi = {10.1177/2326409818771101}, institution = {Fachbereich Angewandte Naturwissenschaften}, pages = {1 -- 7}, year = {2018}, abstract = {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.}, language = {en} }