Ontology highlight
ABSTRACT:
SUBMITTER: Mochel F
PROVIDER: S-EPMC2987415 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Mochel Fanny F Duteil Sandrine S Marelli Cécilia C Jauffret Céline C Barles Agnès A Holm Janette J Sweetman Lawrence L Benoist Jean-François JF Rabier Daniel D Carlier Pierre G PG Durr Alexandra A
European journal of human genetics : EJHG 20100526 9
We previously identified a systemic metabolic defect associated with early weight loss in patients with Huntington's disease (HD), suggesting a lack of substrates for the Krebs cycle. Dietary anaplerotic therapy with triheptanoin is used in clinical trials to promote energy production in patients with peripheral and brain Krebs cycle deficit, as its metabolites - C5 ketone bodies - cross the blood-brain barrier. We conducted a short-term clinical trial in six HD patients (UHDRS (Unified Huntingt ...[more]