Article
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
American journal of human genetics - 5 Jan 2017
Ait-El-Mkadem Samira, Dayem-Quere Manal, Gusic Mirjana, Chaussenot Annabelle, Bannwarth Sylvie, François Bérengère, Genin Emmanuelle C, Fragaki Konstantina, Volker-Touw Catharina L M, Vasnier Christelle, Serre Valérie, van Gassen Koen L I, Lespinasse Françoise, Richter Susan, Eisenhofer Graeme, Rouzier Cécile, Mochel Fanny, De Saint-Martin Anne, Abi Warde Marie-Thérèse, de Sain-van der Velde Monique G M, Jans Judith J M, Amiel Jeanne, Avsec Ziga, Mertes Christian, Haack Tobias B, Strom Tim, Meitinger Thomas, Bonnen Penelope E, Taylor Robert W, Gagneur Julien, van Hasselt Peter M, Rötig Agnès, Delahodde Agnès, Prokisch Holger, Fuchs Sabine A, Paquis-Flucklinger Véronique
Abstract excerpt
MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized hypotonia, psychomotor delay, refractory epilepsy, and elevated lactate in the blood and cerebrospinal fluid. Functional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.