Preferred Label : pyruvate dehydrogenase E2 deficiency;

MeSH note : mutation in DLAT;

MeSH synonym : lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex;

Détails


Consulter ci-dessous une sélection des principales ressources :

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=79244
2011
France
scientific and technical information
pyruvate dehydrogenase complex deficiency disease
dihydrolipoyllysine-residue acetyltransferase
pyruvate dehydrogenase complex deficiency
pyruvate dehydrogenase E2 deficiency
lactic acidosis, congenital infantile, due to LAD deficiency
dihydrolipoamide dehydrogenase
lactic acidosis, congenital infantile, due to LAD deficiency
pyruvate dehydrogenase E2 deficiency

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27/07/2025


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