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Literature summary for 4.2.1.18 extracted from

  • Di Rosa, G.; Deodato, F.; Loupatty, F.J.; Rizzo, C.; Carrozzo, R.; Santorelli, F.M.; Boenzi, S.; DAmico, A.; Tozzi, G.; Bertini, E.; Maiorana, A.; Wanders, R.J.; Dionisi-Vici, C.
    Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria (2006), J. Inherit. Metab. Dis., 29, 546-550.
    View publication on PubMed
Search for more literature for 4.2.1.18

Application

Application Comment Organism
medicine studies on the metabolic disease 3-methylglutaconic aciduria Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
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 Homo sapiens 5739
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
(S)-3-hydroxy-3-methylglutaryl-CoA Homo sapiens catalyzes fifth step in the leucine degradation pathway trans-3-methylglutaconyl-CoA + H2O
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 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q13825
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-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast activity of 3-methylglutaconyl-CoA hydratase measured Homo sapiens
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Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 activity of 3-methylglutaconyl-CoA hydratase measured in fibroblasts within normal limits in all patients, urinary organic acid analysis determined by HPLC or mass spectrometry, increase of 3-methylglutaconic acid in all cases, and 3-methylglutaric acid in four out five patients, three novel subtypes of the diseease 3-methylglutaconic aciduria not coupled to impaired activity of 3-methylglutaconyl-CoA hydratase Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
(S)-3-hydroxy-3-methylglutaryl-CoA catalyzes fifth step in the leucine degradation pathway Homo sapiens trans-3-methylglutaconyl-CoA + H2O
-
 ?
(S)-3-hydroxy-3-methylglutaryl-CoA four types of the human disease 3-methylglutaconic aciduria distinguished, only form I is due to deficient activity of 3-methylglutaconyl-CoA hydratase leading to accumulation of 3-methylglutaconate Homo sapiens trans-3-methylglutaconyl-CoA + H2O
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 ?

Synonyms

Synonyms Comment Organism
3-methylglutaconyl-CoA hydratase
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 Homo sapiens
3-MG-CoA
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 Homo sapiens