4.2.1.18: methylglutaconyl-CoA hydratase

This is an abbreviated version!
For detailed information about methylglutaconyl-CoA hydratase, go to the full flat file.

Word Map on EC 4.2.1.18

Reaction

(S)-3-hydroxy-3-methylglutaryl-CoA
=
trans-3-methylglutaconyl-CoA
+
H2O

Synonyms

hydratase, methylglutaconyl coenzyme A, methylglutaconyl coenzyme A hydratase, 3-methylglutaconyl CoA hydratase, methylglutaconase, MG-CoA hydratase, HMG-CoA hydrolyase, AUH, (3S)-methylglutaconyl-CoA hydratase, MGCH, 3MGH, 3-methylglutaconyl-CoA hydratase, 3-MG-CoA, AU RNA binding protein/enoyl-Coenzyme A hydratase, LiuC, Tb427.10.4000, 3-MGCoA-H, At4g16800

ECTree

     4 Lyases
         4.2 Carbon-oxygen lyases
             4.2.1 Hydro-lyases
                4.2.1.18 methylglutaconyl-CoA hydratase

Disease

Disease on EC 4.2.1.18 - methylglutaconyl-CoA hydratase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
acetyl-coa c-acetyltransferase deficiency
Screening for defects of branched-chain amino acid metabolism.
Acidosis, Lactic
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Barth Syndrome
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Cardiomyopathy, Dilated
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.
Cardiomyopathy, Hypertrophic
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Cataract
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Dehydration
Metabolic reconstructions identify plant 3-methylglutaconyl-CoA hydratase that is crucial for branched-chain amino acid catabolism in mitochondria.
Heart Failure
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.
hydroxymethylglutaryl-coa lyase deficiency
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
Screening for defects of branched-chain amino acid metabolism.
isovaleryl-coa dehydrogenase deficiency
Screening for defects of branched-chain amino acid metabolism.
Metabolic Diseases
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.
methylcrotonoyl-coa carboxylase deficiency
Screening for defects of branched-chain amino acid metabolism.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.
3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients.
3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.
Screening for defects of branched-chain amino acid metabolism.
[3-Methylglutaconyl-CoA hydratase deficiency]
Starvation
Metabolic reconstructions identify plant 3-methylglutaconyl-CoA hydratase that is crucial for branched-chain amino acid catabolism in mitochondria.