DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease BEFREE Enhanced ROS generation by disease-causing hE3 variants as well as by the E1-E2 subcomplex of the hKGDHc likely contributes to selected pathogeneses of E3-deficiency, which could be targeted by specific drugs or antioxidants; lipoic acid was demonstrated to be a potent inhibitor of ROS generation by hE3 in vitro. 28579060 2018
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 Biomarker disease CLINGEN Enhanced ROS generation by disease-causing hE3 variants as well as by the E1-E2 subcomplex of the hKGDHc likely contributes to selected pathogeneses of E3-deficiency, which could be targeted by specific drugs or antioxidants; lipoic acid was demonstrated to be a potent inhibitor of ROS generation by hE3 in vitro. 28579060 2018
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease CLINVAR Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. 27144126 2016
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 Biomarker disease CLINGEN We found two novel DLD mutations (p.I40Lfs*4; p.G461E) in a 19 year-old patient with lactic acidosis and a complex amino- and organic aciduria consistent with DLD deficiency, manifesting progressive exertional fatigue. 25251739 2014
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease CLINVAR We found two novel DLD mutations (p.I40Lfs*4; p.G461E) in a 19 year-old patient with lactic acidosis and a complex amino- and organic aciduria consistent with DLD deficiency, manifesting progressive exertional fatigue. 25251739 2014
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 CausalMutation disease CLINVAR Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 24516753 2014
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GermlineCausalMutation disease ORPHANET Lipoic acid biosynthesis defects. 24777537 2014
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease CLINVAR Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. 23995961 2014
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 CausalMutation disease CLINVAR Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. 23995961 2014
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 Biomarker disease CLINGEN Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. 23290025 2013
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 CausalMutation disease CLINVAR Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. 23290025 2013
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 Biomarker disease BEFREE Exome capture was performed in a boy who developed Leigh disease following a gastroenteritis and had combined PDH and α-KGDH deficiency with a unique amino acid profile that partly ressembled E3 subunit (dihydrolipoamide dehydrogenase / DLD) deficiency. 24341803 2013
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 Biomarker disease BEFREE Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. 23478190 2013
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease BEFREE Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. 23290025 2013
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 CausalMutation disease CLINVAR Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. 23478190 2013
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 CausalMutation disease CLINVAR Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase. 21558426 2011
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 CausalMutation disease CLINVAR Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells. 21930696 2011
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease CLINVAR Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells. 21930696 2011
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease CLINVAR Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase. 21558426 2011
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease UNIPROT Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex. 20160912 2009
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease CLINVAR TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency. 18362926 2008
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 GeneticVariation disease UNIPROT In humans, mutations in the DLD homodimer interface have been linked to an atypical form of DLD deficiency. 17404228 2007
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.800 CausalMutation disease CLINVAR Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. 16601893 2006