Laboratory medicine unveiling an unusual cause of D-lactic acidosis as the trigger of decompensation of a rare inborn error of metabolism-Reference-Cited by-同舟云学术

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

Published:2023-06-19 Issue:12 Volume:61 Page:e263-e267
ISSN:1434-6621
Container-title:Clinical Chemistry and Laboratory Medicine (CCLM)
language:en
Short-container-title:

Author:

Lefèvre Charles R.¹^ORCID,Sacaze Elise²,Damaj Léna³,Rollier Paul⁴,Lenski Marie⁵,Le Stradic Camille⁶,Bendavid Claude¹,Reynier Pascal⁷,Dieu Xavier⁷,Prunier Delphine⁷,Moreau Caroline¹,Homedan Chadi⁷

Affiliation:

1. Laboratoire de Biochimie-Toxicologie , CHU de Rennes , Rennes , France

2. Service de Pédiatrie , CHU de Brest , Brest , France

3. Service de Pédiatrie , CHU de Rennes , Rennes , France

4. Service de Génétique Clinique , CHU de Rennes , Rennes , France

5. Unité Fonctionnelle de Toxicologie , CHU de Lille , Lille , France

6. Service de Pédiatrie , CH de Lorient , Lorient , France

7. Laboratoire de Biochimie et Biologie Moléculaire , CHU d’Angers , Angers , France

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://www.degruyter.com/document/doi/10.1515/cclm-2023-0425/pdf

Reference12 articles.

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2. 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.

3. 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.

4. 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.

5. 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.