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.
hydroxymethylglutaryl-coa lyase deficiency
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.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.
methylglutaconyl-coa hydratase deficiency
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.
methylglutaconyl-coa hydratase deficiency
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.
methylglutaconyl-coa hydratase deficiency
Screening for defects of branched-chain amino acid metabolism.
Starvation
Metabolic reconstructions identify plant 3-methylglutaconyl-CoA hydratase that is crucial for branched-chain amino acid catabolism in mitochondria.
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