Organic Acids in the Study of Metabolic Diseases

Disease Diagnostically useful urinary metabolites Enzyme defect Section reference 

Acetoacetyl-CoA thiolase deficiency 3-Hydroxybutyric and acetoacetic acids Cytosolic acetoacetyl-CoA thiolase 12.2 

Dicarboxylic aciduria (congenital medium-chain-length dicarboxylic aciduria)  

Glutaric aciduria Glutaric, 3-hydroxyglutaric and glutaconic acids Glutaryl-CoA dehydrogenase (EC 1.3.99.7) 13.2 

D-2-Hydroxyglutaric 2-Hydroxyglutaric, 2-oxoglutaric, succinic and glycollic acids Not known (Chapter 16) 

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