活性ペプチドの DDS

遺伝性酵素欠損症における酵素補充療法

抄録

Genetic enzyme deficiencies are diseases caused by defective enzyme expression or function due to abnormalities in the gene. Not sufficient therapeutic methods are available for most of these diseases. Thus, diet therapy, drug therapy and enzyme sup-plementation therapy are sometimes effective. Although there have been many attempts both in in vivo and in vitro systems to treat patients with genetic enzyme deficiencies by enzyme sup-plementation therapy, good results have been obtained from only a few of them. Adenosine deaminase deficiency causes severe combined immunodeficiency. Muscular injection of polyethyleneglycol-conjugated bovine adenosine deaminase to the patients effectively maintain near normal ability of them to resist microorganisms. Weekly injection has been able to maintain the near normal level of serum adenosine deaminase, and decrease the level of deoxyadenosyl nucleotides which were considered to be the toxic compounds in this disease. Among others, polyethyleneglycol-conjugated uricase was useful to treat patients with lymphoma who had undergone chemotherapeutic therapy. The most promising approach in this field might be gene therapy in which exogenous gene is introduced to the patients.