Title :

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of cpt2 deficiency

Author(s) :

Fontaine, Monique [Auteur]
Kim, Isabelle [Auteur]
Dessein, Anne-Frédérique [Auteur]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172
Mulliez, Karine [Auteur]
Dobbelaere, Dries [Auteur]
Douillard, Claire [Auteur]
Sole, Guilhem [Auteur]
Schiff, Manuel [Auteur]
Jaussaud, Roland [Auteur]
Espil-Taris, Caroline [Auteur]
Boutron, Audrey [Auteur]
Wuyts, Wim [Auteur]
Acquaviva, Cecile [Auteur]
Vianey-Saban, Christine [Auteur]
Roland, Dominique [Auteur]
Joncquel-Chevalier Curt, Marie [Auteur]
Vamecq, Joseph [Auteur]

Journal title :

Molecular genetics and metabolism

Abbreviated title :

Mol. Genet. Metab.

Publication date :

2018-02-12

ISSN :

1096-7206

Keyword(s) :

Late presentation
beta-oxidation disorders
Fluxomic study
Mitochondrial fatty acid oxidation
Diagnosis orientation
intermembrane space pool of carnitine
Known and new CPT2 variants
Carnitine palmitoyltransferase type 2
CPT2
Rhabdomyolysis
Deuterated acylcarnitines
Deuterated palmitate
Acylcarnitines
CPT2 deficiency
CPT1

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, its diagnosis may be evocated ...
Show more >Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, its diagnosis may be evocated when blood acylcarnitine profile is abnormal. However, a lack of abnormalities or specificity in this profile is not exclusive of CPT2 deficiency. Our retrospective study reports clinical and biological data in a cohort of 11 patients with circulating acylcarnitine profile unconclusive enough for a specific diagnosis orientation. In these patients, CPT2 gene studies was prompted by prior fluxomic explorations of mitochondrial β-oxidation on intact whole blood cells incubated with pentadeuterated ([16-2322Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2021-09-02T07:01:44Z