Literature summary for 1.3.8.4 extracted from

Bonilla Guerrero, R.; Wolfe, L.A.; Payne, N.; Tortorelli, S.; Matern, D.; Rinaldo, P.; Gavrilov, D.; Melan, M.; He, M.; Steinberg, S.J.; Raymond, G.V.; Vockley, J.; Gibson, K.M.
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia (2008), J. Inherit. Metab. Dis., 31, S453-456.

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Application

Application	Comment	Organism
medicine	isovaleric acidaemia, caused by isovaleryl coenzyme A dehydrogenase deficiency, is an autosomal-recessive disorder of L-leucine catabolism	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G375A	c.1124G>A, potentially disease-associated allele	Homo sapiens
IVS234+85insTT	potentially disease-associated allele	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P26440	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-
fibroblast	-	Homo sapiens	-
leukocyte	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
isovaleric-CoA dehydrogenase	-	Homo sapiens
IVD	-	Homo sapiens

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Release 2023.1 (January 2023)