Protein Variants | Comment | Organism |
---|---|---|
additional information | mutations, e.g. C901G, C1528G, or deletion of nucleotides 274 to 278, involved in development of the severe chorioretinopathy in humans which show only residual or no remaining enzyme activity, retinal phenotypes in enzyme deficient children, overview | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | 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 | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | 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 | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
LCHAD | - |
Homo sapiens |
More | cf. EC 1.1.1.35 | Homo sapiens |