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Literature summary for 1.3.8.1 extracted from

  • Waisbren, S.E.; Levy, H.L.; Noble, M.; Matern, D.; Gregersen, N.; Pasley, K.; Marsden, D.
    Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms (2008), Mol. Genet. Metab., 95, 39-45.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine newborn screening assays for short-chain acyl-CoA dehydrogenase deficiency are based on the detection of elevated butyrylcarnitine (C4) levels Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
butyryl-CoA + electron acceptor
-
Homo sapiens 2-butenoyl-CoA + reduced acceptor
-
?

Synonyms

Synonyms Comment Organism
SCAD
-
Homo sapiens
short-chain acyl-CoA dehydrogenase
-
Homo sapiens