Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism
- PMID: 37327352
- DOI: 10.1515/cclm-2023-0425
Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism
Keywords: ACAT1; D-lactate; e-cigarette; intoxication; propylene glycol.
References
-
- Fukao, T, Mitchell, G, Sass, JO, Hori, T, Orii, K, Aoyama, Y. Ketone body metabolism and its defects. J Inherit Metab Dis 2014;37:541–51. https://doi.org/10.1007/s10545-014-9704-9 . - DOI
-
- Paquay, S, Bourillon, A, Pichard, S, Benoist, J-F, de Lonlay, P, Dobbelaere, D, et al.. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. J Inherit Metab Dis 2017;40:415–22. https://doi.org/10.1007/s10545-017-0021-y . - DOI
-
- Abdelkreem, E, Harijan, RK, Yamaguchi, S, Wierenga, RK, Fukao, T. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Hum Mutat 2019;40:1641–63. https://doi.org/10.1002/humu.23831 . - DOI
-
- Grünert, SC, Sass, JO. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways. Orphanet J Rare Dis 2020;15:106. https://doi.org/10.1186/s13023-020-01357-0 . - DOI
-
- Worthley, LIG, Guerin, M, Pain, RW. For calculating osmolality, the simplest formula is the best. Anaesth Intensive Care 1987;15:199–202. https://doi.org/10.1177/0310057X8701500214 . - DOI
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Miscellaneous