Condition: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
rs1085307550 in
ECHS1 gene and
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PMID 26251176 2015 Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.