EC Number |
Natural Substrates |
---|
1.1.1.211 | a long-chain (S)-3-hydroxyacyl-CoA + NAD+ |
- |
1.1.1.211 | more |
trifunctional, membrane bound, beta-oxidation enzyme |
1.1.1.211 | more |
LCHAD and mitochondrial trifunctional protein, EC 4.2.1.17, deficiency can lead to retinopathy and peripheral neuropathy |
1.1.1.211 | more |
mutational LCHAD deficiency leads to accumulation of long-chain 3-hydroxyacylcarnitines and the severe chorioretinopathy, retinal phenotypes in enzyme deficient children, the progression of the disease can be prevented by a dietary therapy including supplementation with docosahexaenoic acid, DHA, overview |
1.1.1.211 | more |
mutational enzyme deficiency may lead to acute fatty liver in pregnancy, a serious, often lethal hepatic disorder, overview |