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… 

Role of non‐enzymatic chemical reactions in 3‐methylglutaconic aciduria

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Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase

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On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism

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3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

The case of a 31-month-old female child referred to the authors' center after the detection of increased 3-hydroxyisovalerylcarnitine levels at newborn screening and the presence of two microdeletions in compound heterozygosity encompassing the AUH gene, which confirmed the diagnosis of MGCA1, exemplifies the importance of the biochemical phenotype in the differential diagnosis of metabolic diseases.

Metabolic reconstructions identify plant 3‐methylglutaconyl‐CoA hydratase that is crucial for branched‐chain amino acid catabolism in mitochondria

Gene network modeling in Arabidopsis and rice, and plant-prokaryote comparative genomics detected candidates for 3-methylglutaconyl-CoA hydratase, one of the missing plant enzymes of leucine catabolism, and evidence is shown that unlike the situation observed in Trypanosomatidae, leucinescatabolism does not contribute to the formation of the terpenoid precursor mevalonate.

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