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 27/118）[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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概要：
Serum copper (Cu) and ceruloplasmin (Cp), catecholamines such as noradrenalin(NAD), adrenaline (AD) and dopamine (DA), and urinary vanillylmandelic acid (VMA) andhomovanillic acid (HVA) were measured ....

Serum copper (Cu) and ceruloplasmin (Cp), catecholamines such as noradrenalin(NAD), adrenaline (AD) and dopamine (DA), and urinary vanillylmandelic acid (VMA) andhomovanillic acid (HVA) were measured regularly. If the Cu and Cp levels increase, it isassumed that copper is transported through enterocyte. Catecholamines were measured to seeratios of NAD to DA, and AD to DA, and also to see a ratio of VMA to HVA. These ratios arethought to be indicators of activity of dopamineβhydroxylase, which is one of secreting copperenzymes. If these ratios increase, it is assumed that copper is transported into trans-Golginetwork and corporated into this copper requiring enzyme. Other measurements included bonemineral density (BMD) by dual energy X-ray absorptiometry to see probable connective tissueimprovement. In addition, as renal dysfunction is a concern as an adverse effect by thetreatment due to the accumulation of copper, serum urea nitrogen and creatinine, and urinaryβ2microglobulin were measured.Informed consent was taken from their parents, and the study was approved by theethical committee of Teikyo University hospital (No. 08-114).Results and discussionSerum levels of Cu and Cp are shown in Fig. 1. In patient 1, both Cu and Cp were below thenormal limits at the onset of disulfiram, in spite of the copper-histidine treatment. The valuesthen increased after disulfiram treatment into the normal range, and Cu has almost remained over100ng/ml without changing the dose of copper-histidine. In patient 2, serum Cu and Cp waswithin normal range with copper-histidine administration, with no apparent change after theaddition of disulfiram. In patient 3 with OHS, both serum Cu and Cp were below the normalrange before treatment, and these values did not change after disulfiram administration.According to the parents of patient 1, he showed favorable emotional expression andbehavior, such as smiling, laughing, pulling his nasogastric tube off, and so on, more often thanbefore, shortly after starting disulfiram, however, further clinical improvement was not observedlater on. In other two patients, any beneficial change was not recognized clinically.The indices of dopamineβhydroxylase activity, such as NAD to DA, AD to DA, andVMA to HVA, were low before disulfiram treatment. Since dopamineβhydroxylase catalyzesDA to NAD conversion, the NAD to DA ratio is low when the activity of this enzyme isdisturbed as in MD. However, these ratios did not change after the treatment (NAD to DA ratiois shown in Fig 2).Lumber BMDs before disulfiram in the two MD patients were 0.245 and 0.541g/cm 2 ,which were around 50% of the mean values for their age, and 0.704g/cm 2 in the OHS patient,