|
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase.
|
20514322 |
2010 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Glutaric acidemia type I (GA-I) is an autosomal recessive disorder of amino acid metabolism resulting from a deficiency of glutaryl-CoA dehydrogenase (GCDH).
|
11854167 |
2002 |
|
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 |
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 |
BEFREE |
Glutaric acidemia type 1 (GA1) is a metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH).
|
21176883 |
2011 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
These data suggest that GCDH is a constituent of multimeric mitochondrial dehydrogenase complexes, and the characterization of their interrelated functions may provide new insights into the regulation of lysine oxidation and the pathophysiology of GA1.
|
24498361 |
2014 |
|
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 |
BEFREE |
GCDH gene mutations were identified in all five probands with GA-I.
|
26656312 |
2016 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-CoA dehydrogenase.
|
8139602 |
1994 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
|
8900227 |
1996 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan.
|
27853989 |
2017 |
|
Glutaric aciduria, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: a possible mechanism for brain injury in glutaric aciduria type I.
|
22999741 |
2012 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen.
|
10960496 |
2000 |