|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
The electron-transfer flavoprotein dehydrogenase gene (<i>ETFDH</i>) that encodes the ETF-ubiquinone oxidoreductase (ETF-QO) has been reported to be the major cause of multiple acyl-CoA dehydrogenase deficiency (MADD).
|
30709034 |
2019 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The late-onset MADD is frequently caused by mutations in ETFDH gene.
|
31136308 |
2019 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To report mutations in ETFA, ETFB and ETFDH genes identified in Portuguese patients, correlating, whenever possible, biochemical and clinical outcomes with the effects of mutations on the structure and stability of the affected proteins, to better understand MADD pathogenesis at the molecular level.
|
31418342 |
2019 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH.
|
31392824 |
2019 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This case report extends the spectrum of ETFDH mutations in MADD, providing further evidence that patients presenting at least one missense mutation in the FAD-binding domain may respond to either carnitine or riboflavin treatment, due to the recovery of some enzymatic activity.
|
30424791 |
2018 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) mainly affects the neck extensor muscle group, which has been confirmed by novel mutations in electron-transferring-flavoprotein dehydrogenase (ETFDH).
|
30508893 |
2018 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene.
|
29615056 |
2018 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
|
28914566 |
2018 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The muscle biopsy showed lipid storage disorder; and compound heterozygous mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene were found in the two patients through targeted next generation sequencing, which provided the definite diagnostic evidences of late-onset MADD.
|
30587156 |
2018 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
CLINGEN |
From a retrospective study, relying mainly on metabolic data, we have identified a novel mutation, c.1067G>A (p.Gly356Glu) in exon 8 of ETFDH, in three South African Caucasian MADD patients with the index patient presenting the hallmark features of type I MADD and two patients with compound heterozygous (c.1067G>A+c.1448C>T) mutations presenting with MADD type III.
|
29249369 |
2018 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.
|
29249369 |
2018 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD.
|
27935074 |
2017 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.
|
27935074 |
2017 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene.
|
28950901 |
2017 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
|
27000805 |
2016 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
|
26403312 |
2016 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The novel variants in ETFDH and the corresponding clinical features enrich the variant spectrum of late-onset MADD and provide a new insight into the genotype-phenotype relationship.
|
27000805 |
2016 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
|
27270537 |
2016 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
|
27038534 |
2016 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.
|
25913573 |
2015 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.
|
24522293 |
2014 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder caused by deficiency of electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase.
|
25200064 |
2014 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
|
24357026 |
2014 |
|
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.
|
23893693 |
2014 |