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Literature summary for 1.3.8.8 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
Search for more literature for 1.3.8.8

Application

Application Comment Organism
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

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
lymphocyte
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

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

Substrates and Products (Substrate)

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

Synonyms

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

Temperature Optimum [°C]

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

pH Optimum

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