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Results 1 - 5 of 5
EC Number
Application
Commentary
Reference
degradation
when gene encoding 3-hydroxyacyl-CoA dehydrogenase is deleted, it is possible to produce medium-chain-length polyhydroxyalkanoates containing only two different monomer structures
diagnostics
3-hydroxypalmitoleoyl-carnitine and other hydroxylated long chain acylcarnitines are markers of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and/or trifunctional protein (TFP) deficiency, while heptadecanoylcarnitine is a biomarker specific for propionic acidemia (PA) or methylmalonic acidemia (MMA) patients able to detect propionate disorders during expanded newborn screening
medicine
case study on a Korean male newborn who presented with severe lactic acidosis, seizures, and heart failure and an increase of 3-hydroxy species: 3-OH-palmitoylcarnitine, at 0.44 nmol/ml, 3-hydroxylinoleylcarnitine, at 0.31 nmol/ml, and 3-hydroxyoleylcarnitine, at 0.51 nmol/ml. The findings suggest either long-chain 3-hydroxyacyl-coA dehydrogenase deficiency or complete MTP deficiency. The patient was a compound heterozygote for c.358dupT and c.1364T>G mutations. Although the patient was treated by reduction of glucose administration and supplementation of a medium-chain triglyceride-based diet with L-carnitine, he died 2 months after birth due to advanced cardiac failure
medicine
inverse correlation between enzyme activity and gestational age during second and third trimester of pregnancy, involvement of enzyme defects in a subset of pregnancy complications
medicine
treatment of patients with defects in enzymic activity, provision of odd-chain species of medium fatty acids decreases the build-up of long-chain fatty acid oxidation intermediates in an in vitro skin fibroblast model
Results 1 - 5 of 5