Article
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Molecular genetics and metabolism - 1 May 2013
Brassier Anaïs, Ottolenghi Chris, Boutron Audrey, Bertrand Anne-Marie, Valmary-Degano Séverine, Cervoni Jean-Paul, Chrétien Dominique, Arnoux Jean-Baptiste, Hubert Laurence, Rabier Daniel, Lacaille Florence, de Keyzer Yves, Di Martino Vincent, de Lonlay Pascale
Abstract excerpt
The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. Specific changes in the levels of urinary and plasma metabolites are the hallmark of the classical form of the disease. Here, we report a consanguineous family of Algerian origin with DLD deficiency presenting without...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.