Assays / Genetic Enzymes / 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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