|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric Aciduria Type I (GA-I), is an autosomal recessive neurometabolic disease caused by mutations in the GCDH gene that encodes for glutaryl-CoA dehydrogenase (GCDH), a flavoprotein involved in the metabolism of tryptophan, lysine and hydroxylysine.
|
31491587 |
2020 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
To contribute to a better molecular understanding of GA-I we undertook a detailed molecular study on two GCDH disease-related variants, GCDH-p.Arg227Pro and GCDH-p.Val400Met.
|
31491587 |
2020 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric Aciduria type I (GA-I) is caused by mutations in the GCDH gene.
|
30686684 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric acidemia type I (GA I) is a neurometabolic disorder of lysine (Lys) catabolism caused by glutaryl-CoA dehydrogenase (GCDH) deficiency.
|
31121257 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH).
|
31062211 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
|
30570710 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
|
27672653 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Glutaric acidemia type I (GA-I) is a neurometabolic disease caused by deficient activity of glutaryl-CoA dehydrogenase (GCDH) that results in accumulation of metabolites derived from lysine (Lys), hydroxylysine, and tryptophan catabolism.
|
29779173 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH).
|
31062211 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric acidemia type I (GA-1) is an inborn error of metabolism due to deficiency of glutaryl-CoA dehydrogenase (GCDH), which catalyzes the conversion of glutaryl-CoA to crotonyl-CoA.
|
30203563 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Glutaric acidemia type I (GA I) is an inherited neurometabolic disease caused by deficient activity of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH), resulting in predominant accumulation of glutaric and 3-hydroxyglutaric acids derived from lysine (Lys), hydroxylysine, and tryptophan catabolism.
|
31125684 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
|
27672653 |
2019 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Glutaric Acidemia Type 1: A Case of Infantile Stroke.
|
28411331 |
2018 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a case of prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous GCDH gene mutation at IVS 3 + 1 G > A and c. 1240 G > A mutations, which provide better genetic counselling for the couples.
|
29458885 |
2018 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
|
29665094 |
2018 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.
|
27476540 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The clinical data and glutaryl-CoA dehydrogenase (GCDH) genetic test results of two cases of late-onset GA-I in Uighur were collected and analyzed, and reviewed with relevant literature.
|
28352331 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
|
28062662 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
|
28389991 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The neurometabolic disorder glutaric aciduria type 1 (GA1) is caused by mutations in the GCDH gene encoding the mitochondrial matrix protein glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes.
|
28062662 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric acidemia type I (GA-I) is an inherited neurometabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH) and characterized by increased levels of glutaric, 3-OH-glutaric, and glutaconic acids in the brain parenchyma.
|
28762469 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.
|
28352331 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, GCDH was found to be significantly expressed in different other organs (e.g. kidney, gut) in adult rats probably explaining the evolving phenotype in GA-I patients.
|
27984186 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric acidemia I (GAI) is an autosomal recessive metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase enzyme (GCDH).
|
28389991 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
MGD |
Glutaric aciduria type I (GA-I) is a rare organic aciduria caused by the autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase (GCDH).
|
28545977 |
2017 |