Inborn errors of metabolism (IEMs) are individually rare but collectively common. As more and more genes are cloned and specific disease-causing mutations are identified, the diagnosis of IEMs is becoming increasingly confirmed by mutation analysis. Diagnosis is important not only for treatment and prognosis but also for genetic counselling and prenatal diagnosis in subsequent pregnancies. A wide range of molecular methods is available for the identification of mutations and other DNA variants, most of which are based on the Polymerase Chain Reaction (PCR). In this chapter, we focus on PCR-based methods for the detection of point mutations or small deletions/insertions as these are the most frequent causes of IEMs.
Keywords: IEM; PCR; Postnatal molecular diagnosis; Prenatal molecular diagnosis.