Ontology highlight
ABSTRACT:
SUBMITTER: Abela L
PROVIDER: S-EPMC5413020 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Abela Lucia L Spiegel Ronen R Crowther Lisa M LM Klein Andrea A Steindl Katharina K Papuc Sorina Mihaela SM Joset Pascal P Zehavi Yoav Y Rauch Anita A Plecko Barbara B Simmons Thomas Luke TL
PloS one 20170502 5
Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described as a neurodegenerative disease of autosomal recessive inheritance. To date there is no biomarker for ACO2 deficiency and diagnosis relies on genetic analysis. Here we report global metabolic profiling in eight patients with ACO2 deficiency. Using an L ...[more]