Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Jun 19;61(12):e263-e267.
doi: 10.1515/cclm-2023-0425. Print 2023 Nov 27.

Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism

Affiliations

Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism

Charles R Lefèvre et al. Clin Chem Lab Med. .
No abstract available

Keywords: ACAT1; D-lactate; e-cigarette; intoxication; propylene glycol.

PubMed Disclaimer

References

    1. 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
    1. 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
    1. 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
    1. 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
    1. 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

LinkOut - more resources