Overcoming enzyme deficiencies: Rx of metabolic disease

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The concept is simple: in the absence of a critical enzyme, as in many metabolic diseases, therapy consists of removing the accumulated metabolite or replacing the missing metabolite, hence steroid therapy in forms of congenital adrenal hyperplasia due to absence of one of the enzymes in cortisol biosynthesis. The results may or may not be consistent. Ideally, the missing enzyme would be replaced via gene therapy. Another “interim” therapy could be to administer exogenous enzyme, which may be difficult since the product must be infused and free of adverse effects. Harmatz et al report the safety and efficacy of recombinant human arylsulfatase B in children with mucopolysaccharidosis VI. The results are impressive. Thus, until gene therapy is a realistic option.…