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Literature summary extracted from

  • ter Veld, F.; Mueller, M.; Kramer, S.; Haussmann, U.; Herebian, D.; Mayatepek, E.; Laryea, M.D.; Primassin, S.; Spiekerkoetter, U.
    A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns (2009), PLoS ONE, 4, e6449.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
1.3.8.8 medicine the developed LC-MS/MS method is able to provide ample sensitivity to correctly and rapidly determine MCAD and VLCAD residual activity in human lymphocytes Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.8 A985G nearly all patients with residual MCAD activities below 2.5% are homozygous 985A>G carriers Homo sapiens
1.3.8.8 T199C all patients with the 199T>C mutation have residual activities above 10% Homo sapiens

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.8.8 lymphocyte
-
Homo sapiens
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
1.3.8.8 additional information
-
heterozygous ACADVL mutation carriers show residual VLCAD activities of 23.7 to 54.2% Homo sapiens
1.3.8.8 additional information
-
residual VLCAD activity of patients with confirmed VLCAD-deficiency is between 0.3 and 1.1% Homo sapiens
1.3.8.8 0.00238
-
MCAD activity, controls Homo sapiens
1.3.8.8 0.00695
-
VLCAD activity, controls, range 0.00195 to 0.01191 Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.8.8 octanoyl-CoA + acceptor MCAD activity assay Homo sapiens ?
-
?
1.3.8.8 palmitoleoyl-CoA + acceptor VLCAD activity assay Homo sapiens ?
-
?
1.3.8.8 palmitoyl-CoA + acceptor VLCAD activity assay Homo sapiens ?
-
?

Synonyms

EC Number Synonyms Comment Organism
1.3.8.8 LCAD
-
Homo sapiens
1.3.8.8 long-chain acyl-CoA dehydrogenase
-
Homo sapiens
1.3.8.8 MCAD
-
Homo sapiens
1.3.8.8 medium long-chain acyl-CoA dehydrogenase
-
Homo sapiens
1.3.8.8 very long-chain acyl-CoA dehydrogenase
-
Homo sapiens
1.3.8.8 VLCAD
-
Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
1.3.8.8 37
-
activity assay Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
1.3.8.8 8
-
activity assay Homo sapiens