|
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 |
Biomarker
|
disease |
MGD |
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 |
Biomarker
|
disease |
CLINGEN |
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 |
Biomarker
|
disease |
BEFREE |
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder characterized by a deficiency of glutaryl-CoA dehydrogenase (GCDH) activity.
|
15689364 |
2005 |
|
Glutaric aciduria, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type 1 (GA1) is caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH).
|
18348873 |
2008 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
CLINVAR |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 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 |
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 |
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 |
CLINGEN |
GA-1 is known as an autosomal recessively inherited disease due to defects in the gene coding for glutaryl-CoA dehydrogenase (GCDH), a mitochondrial enzyme involved in the catabolism of the amino acids hydroxylysine, lysine and tryptophan.
|
22231382 |
2012 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
GA-1 is known as an autosomal recessively inherited disease due to defects in the gene coding for glutaryl-CoA dehydrogenase (GCDH), a mitochondrial enzyme involved in the catabolism of the amino acids hydroxylysine, lysine and tryptophan.
|
22231382 |
2012 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder caused by glutaryl-CoA dehydrogenase deficiency due to GCDH gene mutations.
|
24332224 |
2014 |
|
Glutaric aciduria, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Glutaric acidemia type I (GA-I) is an inherited neurometabolic childhood disorder caused by defective activity of glutaryl CoA dehydrogenase (GCDH) which disturb lysine (Lys) and tryptophan catabolism leading to neurotoxic accumulation of glutaric acid (GA) and related metabolites.
|
25968119 |
2015 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase.
|
28143689 |
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 |
|
Glutaric aciduria, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
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 |
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 |
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 |