An approach to the diagnosis of inherited metabolic disease: Table 1

Abstract excerpt

Inherited metabolic diseases (IMDs) pose a particular challenge to diagnosis. Although individually rare, improved diagnostics and greater awareness have shown that the incidence is much greater than previously thought. The commonest disorders such as phenylketonuria and medium chain acyl-coA dehydrogenase deficiency (MCADD) have an incidence of approximately 1 in 10 000; however, collectively, all IMDs have an...

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