Ontology highlight
ABSTRACT:
SUBMITTER: Prasun P
PROVIDER: S-EPMC4501236 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Prasun Pankaj P Young Sarah S Salomons Gajja G Werneke Andrea A Jiang Yong-Hui YH Struys Eduard E Paige Mikell M Avantaggiati Maria Laura ML McDonald Marie M
JIMD reports 20150123
Recessive mutations in SLC25A1 encoding mitochondrial citrate carrier cause a rare inherited metabolic disorder, combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by epileptic encephalopathy, respiratory insufficiency, developmental arrest and early death. Here, we describe two siblings compound heterozygotes for null/missense SLC25A1 mutations, c.18_24dup (p.Ala9Profs*82), and c.134C>T (p.Pro45Leu). These children presented with classic clinical features of D,L-2-HGA, but also ...[more]