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Clinical Biochemical Genetics In the Department of Pathology
 Plasma acylcarnitine profile of a patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.  Abnormal elevation of octanoylcarnitine (C8) is characteristic of the disorder.

Clinical Indications for Testing

Inborn Errors of Metabolism

Inborn errors of metabolism encompass a wide variety of biochemical defects which are individually rare but collectively quite common. Symptoms are usually nonspecific and compatible with many non-genetic conditions.

Clinical indications leading to a metabolic evaluation may include:

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