Molecular Genetic Testing for Metabolic Disorders.

Inborn errors of metabolism represent a highly diverse group of genetic disorders. Individually the disorders are rare. The most prevalent, phenylketonuria (PKU), affects approximately 1 in 10,000 individuals. However, because numerous metabolic disorders exist, collectively they are estimated to affect as many as 1 in 600 individuals. The clinical consequences of such disorders are broad and can be severe, with progressive neurological impairment, mental retardation (MR), organomegaly, and high morbidity. Their mode of inheritance is usually autosomal recessive but also can be Xlinked. Metabolic disorders result from defects in the individual enzymes of pathways that govern many different aspects of metabolism in distinct compartments within the cell. [ABSTRACT FROM AUTHOR]