Literature summary extracted from

Koelker, S.; Garbade, S.F.; Boy, N.; Maier, E.M.; Meissner, T.; Muehlhausen, C.; Hennermann, J.B.; Luecke, T.; Haeberle, J.; Baumkoetter, J.; Haller, W.; Muller, E.; Zschocke, J.; Burgard, P.; Hoffmann, G.F.
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany (2007), Pediatr. Res., 62, 357-363.

Application

EC Number	Application	Comment	Organism
1.3.8.6	medicine	glutaric acid, 3-hydroxyglutric acid, and glutarylcarnithine accumulate in patients with GCDH deficiency	Homo sapiens

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.3.8.6	F236L/S259P	this genotype exhibits 3% GCDH activity	Homo sapiens
1.3.8.6	G171W/V410M	this genotype exhibits 8% GCDH activity	Homo sapiens
1.3.8.6	M1V/R227P	this genotype exhibits 4% GCDH activity	Homo sapiens
1.3.8.6	R161Q/C228R	this genotype exhibits 25% GCDH activity	Homo sapiens
1.3.8.6	S225W	this genotype exhibits 6% GCDH activity	Homo sapiens
1.3.8.6	Y155H/A421V	this genotype exhibits 5% GCDH activity	Homo sapiens

Localization

EC Number	Localization	Comment	Organism	GeneOntology No.	Textmining
1.3.8.6	mitochondrion	-	Homo sapiens	5739	-

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.3.8.6	Homo sapiens	-	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
1.3.8.6	fibroblast	-	Homo sapiens	-

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
1.3.8.6	glutaryl-CoA + acceptor	-	Homo sapiens	crotonyl-CoA + CO2 + reduced acceptor	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
1.3.8.6	GCDH	-	Homo sapiens

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Release 2023.1 (January 2023)