@article{SassFukaoMitchell2018, author = {J{\"o}rn Oliver Sass and Toshiyuki Fukao and Grant A. Mitchell}, title = {Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories}, series = {Journal of Inborn Errors of Metabolism and Screening}, volume = {6}, publisher = {Sage}, issn = {2326-4098}, doi = {10.1177/2326409818771101}, url = {https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-36412}, 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} }