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 25/118）[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]

このページは、電子ブック 「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」 内の 25ページ の概要です。
秒後に電子ブックの対象ページへ移動します。
「電子ブックを開く」をクリックすると、今すぐ対象ページへ移動します。

概要：
Effects of Disulfiram Treatment in Patients with Menkes Disease and Occipital HornSyndromeEishin Ogawa a* , Hiroko Kodama a,baDepartment of Pediatrics, Teikyo University School of Medicine, TokyobDepa....

Effects of Disulfiram Treatment in Patients with Menkes Disease and Occipital HornSyndromeEishin Ogawa a* , Hiroko Kodama a,baDepartment of Pediatrics, Teikyo University School of Medicine, TokyobDepartment of Health Dietetics, Faculty of Health and Medical Sciences, Teikyo HeiseiUniversity, TokyoShort title: Disulfilam treatment in Menkes dieaseABSTRACTThe clinical and biochemical effects of disulfiram were evaluated in three boys with thedisorders characterized by copper deficiency due to the defect of ATP7A. Two are sufferedfrom Menkes disease (MD) and one from occipital horn syndrome. Disulfiram was orallygiven, in addition to a parenteral administration of copper-histidine in the case of MD patients.Serum levels of copper and ceruloplasmin slightly increased in one MD patient, and he showedfavorable emotional expression and behavior more often than before according to his caretakers.However, no obvious changes were observed in other two patients. Serum ratios ofnoradrenaline to dopamine, and adrenaline to dopamine, which are thought to be the indicatorsof dopamineβhydroxylase activity, one of the copper requiring enzymes, were unaltered afterdisulfiram treatment. No adverse effects were recognized during the treatment period in allpatients. Although the major improvement was not observed clinically or biochemically bydisulfiram treatment so far, the trial will be continued to see the possible effects in thesedisorders with copper transport defect.Key words: Menkes disease, Occipital horn syndrome, disulfiramIntroductionA clinical phenotype of Menkes disease (MD) is characterized by copper deficiency due to thefunctional loss of ATP7A, the copper transporter, and occipital horn syndrome (OHS) is a milderform of this defect. The current standard therapy for copper deficiency is a parenteraladministration of copper-histidine, however, the treatment is not effective for neurologicsymptoms or connective tissue abnormalities, because administered copper is not transported