|
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 |
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 |
CLINVAR |
Molecular determination of glutaric aciduria type I in individuals from southwest Iran.
|
25204480 |
2014 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by mutations in the glutaryl-CoA dehydrogenase gene (GCDH), leading to an accumulation and high excretion of glutaric acid and 3-hydroxyglutaric acid.
|
18775954 |
2008 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I.
|
16488172 |
2006 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
|
27397597 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
|
9711871 |
1998 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Five Lumbee individuals with GA-I had homozygous 1240G>A mutations in GCD.
|
16466958 |
2006 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
|
25255367 |
2015 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We present a rapid and efficient denaturing gradient gel electrophoresis (DGGE) method for the identification of mutations in the glutaryl-CoA dehydrogenase (GCDH) gene that may be used for the molecular diagnosis of GA1 in a routine setting.
|
10699052 |
2000 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
|
25762492 |
2015 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Several pathogenic mutations in GCDH have been reported to cause GAI.
|
9600243 |
1998 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.
|
18411069 |
2008 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Gene symbol: GCDH. Disease: Glutaricacidaemia I.
|
20960650 |
2008 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
|
10960496 |
2000 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Glutaric acidemia type I (GA-I) is a rare metabolic disorder caused by mutation of the glutaryl- CoA dehydrogenase (GCDH) gene.
|
27351573 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
|
28389991 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
|
27629047 |
2016 |