TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Sass, Jörn Oliver
A1  - Fukao, Toshiyuki
A1  - Mitchell, Grant A.
T1  - Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories
JF  - Journal of Inborn Errors of Metabolism and Screening
N2  - 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.
KW  - leucine
KW  - ketolysis
KW  - acetone
KW  - organic aciduria
KW  - SLC
KW  - 3-hydroxy-n-butyric acid
KW  - isoleucine
KW  - ketogenesis
KW  - acetoacetic acid
KW  - MCT
UN  - https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-36412
SN  - 2326-4098
SS  - 2326-4098
U6  - https://doi.org/10.1177/2326409818771101
DO  - https://doi.org/10.1177/2326409818771101
VL  - 6
SP  - 1
EP  - 7
PB  - Sage
ER  -