Biochemical characterization of human 3‐methylglutaconyl‐CoA hydratase and its role in leucine metabolism

@article{Mack2006BiochemicalCO,
  title={Biochemical characterization of human 3‐methylglutaconyl‐CoA hydratase and its role in leucine metabolism},
  author={Matthias Mack and Ute Schniegler-Mattox and Verena Peters and Georg F. Hoffmann and Michael Liesert and Wolfgang Buckel and Johannes Zschocke},
  journal={The FEBS Journal},
  year={2006},
  volume={273}
}
The metabolic disease 3‐methylglutaconic aciduria type I (MGA1) is characterized by an abnormal organic acid profile in which there is excessive urinary excretion of 3‐methylglutaconic acid, 3‐methylglutaric acid and 3‐hydroxyisovaleric acid. Affected individuals display variable clinical manifestations ranging from mildly delayed speech development to severe psychomotor retardation with neurological handicap. MGA1 is caused by reduced or absent 3‐methylglutaconyl‐coenzyme A (3‐MG‐CoA… Expand
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TLDR
It is reported that human 3‐methylglutaconyl‐ CoA hydratase is identical with a previously described RNA‐binding protein (designated AUH) possessing enoyl‐CoA hyDRatase activity, which appears to be compatible with normal development in some cases. Expand
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Using the fungal type I 3- methylglutaconic aciduria model, it is shown that metabolites accumulating in the deficient strain are toxic, although less so than those accumulating in a ΔmccB strain deficient for the upstream enzyme 3-methylcrotonyl-CoA carboxylase. Expand
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.
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TLDR
A new assay for 3- methylglutaconyl-coenzyme A (CoA) hydratase has been developed in which the substrate was synthesized using 3-methylcrotonyl-CoA carboxylase purified from bovine kidney and the rates of conversion from substrate are measured. Expand
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TLDR
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TLDR
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TLDR
Two brothers, aged 7 and 5 years, who excreted large amounts of the leucine metabolites 3- methylglutaconic acid, 3-methylglutaric Acid, and 3-hydroxyisovaleric acid, are described, and a (partial) deficiency of 3-ethylglutaconyl coenzyme A hydratase is proposed to be the most likely underlying defect. Expand
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TLDR
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