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Literature summary for 1.3.8.6 extracted from

  • Treacy, E.P.; Lee-Chong, A.; Roche, G.; Lynch, B.; Ryan, S.; Goodman, S.
    Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype (2003), J. Inherit. Metab. Dis., 26, 72-74.
    View publication on PubMed
Search for more literature for 1.3.8.6

Protein Variants

Protein Variants Comment Organism
R227P naturally occurring mutation leading to reduced enzyme activity, mildly altered phenotype, physiological analysis, absence of glutarate and 3-hydroxyglutarate in serum and in urine, overview Homo sapiens

Localization

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
glutaryl-CoA + acceptor Homo sapiens part of the degradative pathway of the amino acids tryptophan, lysine, and hydroxylysine, enzyme deficiency leads to glutaric aciduria type I leading to nonspecific developmental delay, hypotonia, and macrocephaly with cerebral atrophyof prenatal onset crotonoyl-CoA + CO2 + reduced acceptor
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 patient suffering glutaric aciduria type I, an autosomal recessive inborn error
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
glutaryl-CoA + acceptor
-
 Homo sapiens crotonoyl-CoA + CO2 + reduced acceptor
-
 ?
glutaryl-CoA + acceptor part of the degradative pathway of the amino acids tryptophan, lysine, and hydroxylysine, enzyme deficiency leads to glutaric aciduria type I leading to nonspecific developmental delay, hypotonia, and macrocephaly with cerebral atrophyof prenatal onset Homo sapiens crotonoyl-CoA + CO2 + reduced acceptor
-
 ?

Synonyms

Synonyms Comment Organism
GDH
-
 Homo sapiens