Ontology highlight
ABSTRACT:
SUBMITTER: Donti TR
PROVIDER: S-EPMC5031536 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Donti Taraka R TR Masand Ruchi R Scott Daryl A DA Craigen William J WJ Graham Brett H BH
Molecular genetics and metabolism 20160725 1-2
Deficiency of the TCA cycle enzyme Succinyl-CoA Synthetase/Ligase (SCS), due to pathogenic variants in subunits encoded by SUCLG1 and SUCLA2, causes mitochondrial encephalomyopathy, methylmalonic acidemia, and mitochondrial DNA (mtDNA) depletion. In this study, we report an 11year old patient who presented with truncal ataxia, chorea, hypotonia, bilateral sensorineural hearing loss and preserved cognition. Whole exome sequencing identified a heterozygous known pathogenic variant and a heterozygo ...[more]