Glutaricaciduria
cv_term_accession
KW-0316
canonical
uniprot_keyword
KW-0316
canonical
name
Glutaricaciduria
uniprot
synonym
GA
uniprot
synonym
Glutaric aciduria
uniprot
definition
Protein which, if defective, causes glutaricaciduria (GA), a metabolic disorder characterized by the excretion of glutaric acid in the urine. Type I GA is caused by the deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the metabolism of lysine, hydroxylysine and tryptophan. Type II GA differs from type I in that multiple acyl-CoA dehydrogenase deficiencies result in a large excretion not only of glutaric acid but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II can result from a deficiency of any one of 3 mitochondrial molecules: the alpha and beta subunits of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords