厚生労働科学研究費補助金（難治性疾患克服研究事業） 「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」 平成23年度 総括・分担研究報告書（page 28/118）[厚生労働科学研究費補助金（難治性疾患克服研究事業） 「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」 平成23年度 総括・分担研究報告書]

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which was about 70% of the mean. Low BMD is indicative of connective tissue impairment,however, it is greatly affected by mobility. Therefore, the very low values in the bed-riddenMD patients may be d....

which was about 70% of the mean. Low BMD is indicative of connective tissue impairment,however, it is greatly affected by mobility. Therefore, the very low values in the bed-riddenMD patients may be due to immobilization. BMD slightly increased in patient 1 and 3,whereas slightly decreased in patient 2 after the treatment.Urinaryβ2 microglobulin, an index of renal tubular function, which was quite high inthe two MD patients with copper-histidine treatment, and normal in the OHS patient, did notchange after addition of disulfiram, and serum urea nitrogen and creatinine levels remainednormal during the period. No other adverse effects related to disulfiram have been recognized.Thus, disulfiram treatment appeared a little bit effective with regard to serum Cu and Cpin patient 1, but not in other two patients, and showed no beneficial changes in markers fordopamineβhydroxylase. Reasons for failure of the favorable outcome by disulfiram in thepatients, in contrast to the previous animal studies with DEDTC, might be the differences inblood-brain barrier between humans and rodents, the observed rather small effects in theprevious studies, and the much smaller disulfiram dosage used in this study than that of theanimal studies. As blood-brain barrier is known to be immature in mouse, the effect of DEDTCmight have been modified by the immatureness. Increase in the copper concentrations byaddition of DEDTC in the mouse brain was rather small, less than 50%, and the concentrationwas still below half of the normal control [4], therefore, such small effect may not cause clinicaland biochemical improvement in humans. The dose of DEDTC (or disulfiram) used in theanimal studies was 200mg/kg body weight, which was more than 20-fold larger than that used inthis study. Future studies will be required in younger patients with larger doses to clarify theeffects of disulfiram.ConclusionsAlthough the major improvement was not observed clinically or biochemically by disulfiramtreatment so far, the trial will be continued to see the possible effects in these disorders withcopper transport defect.AcknowledgementThis work was in part by a Grant of Research on Intractable Diseases from Ministry of Health,Labour and Welfare of Japan (23-326) and a memorial fund for Naoki, a former patient withMenkes disease.References