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Literature summary for 1.1.1.211 extracted from

  • Gillingham, M.B.; Weleber, R.G.; Neuringer, M.; Connor, W.E.; Mills, M.; van Calcar, S.; Ver Hoeve, J.; Wolff, J.; Harding, C.O.
    Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency (2005), Mol. Genet. Metab., 86, 124-133.
    View publication on PubMedView publication on EuropePMC
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Protein Variants

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/ Products (Substrates)

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 ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

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 ?
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 ?

Synonyms

Synonyms Comment Organism
LCHAD
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 Homo sapiens
More cf. EC 1.1.1.35 Homo sapiens