Disorders of Organic Acid Metabolism

Disorder Enzyme Or Test
Propionic acidaemia* Propionyl-CoA carboxylase
Methylmalonic acidaemia* [14C]-propionate incorporation
3-methylcrotonyl glycinuria* 3-methylcrotonyl-CoA carboxylase
Multiple carboxylase deficiency Propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase


(* = prenatal diagnosis available)

 

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