Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency

Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency

Mitochondrial malate dehydrogenase (MDH2) deficiency (MDH2D) is an ultra-rare disease with only three patients described in literature to date. MDH2D leads to an interruption of the tricarboxylic acid (TCA) cycle and malate-aspartate shuttle (MAS) and results in severe early onset encephalopathy. Af...

Full description

Bibliographic Details
Main Authors: Alexander Laemmle, Andrea Lisa Steck, André Schaller, Sandra Kurth, Eveline Perret Hoigné, Andrea Deborah Felser, Nedelina Slavova, Claudia Salvisberg, Mariana Atencio, Fanny Mochel, Jean-Marc Nuoffer, Matthias Gautschi
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial malate dehydrogenase deficiency
Encephalopathy
Inborn errors of the tricarboxylic acid cycle
Malate-aspartate shuttle
Triheptanoin
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921001099

Internet

http://www.sciencedirect.com/science/article/pii/S2214426921001099

Similar Items