Abstract:
:Menkes disease (MNK) is a lethal, X-linked recessive disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. The incidence of MNK in Asia is not known. Most patients die by the age of 3 years if adequate treatment is not carried out. Early parenteral administration of copper can prevent the neurological disturbances and lead to a better outcome. In the present study, a survey on MNK in Japan was performed. There were in total 53 live-born Japanese patients with MNK collected from 1990 to 2003, including two females. The incidence of live-born MNK patients between 1992 and 2002 was 2.8 per million live births (95% confidence interval (CI): 1.8 to 3.7), 4.9 per million male live births (95% CI: 3.2 to 6.6). One-third of the patients were born before 37 weeks or weighing less than 2500 g. Seventeen per cent were born both before 37 gestational weeks and weighing less than 2500 g. These proportions were higher than those in Japanese live-birth babies according to a nationwide estimate. The hair on these Japanese patients appeared not only as white or grey but also brown and blond. We also found that many signs had been noted before the patient was brought to a hospital with typical symptoms. These signs may be a clue to early diagnosis of MNK.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Gu YH,Kodama H,Shiga K,Nakata S,Yanagawa Y,Ozawa Hdoi
10.1007/s10545-005-0473-3keywords:
subject
Has Abstractpub_date
2005-01-01 00:00:00pages
473-8issue
4eissn
0141-8955issn
1573-2665journal_volume
28pub_type
杂志文章abstract:: ...
journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章,评审
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journal_title:Journal of inherited metabolic disease
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pub_type: 杂志文章,多中心研究
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