Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome

Journal of Trace Elements in Medicine and Biology

Volumn 26, Issue 2-3, 2012, Pages 102-104

  Ogawa, Eishin ^a   Kodama, Hiroko ^a,b  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TEIKYO HEISEI UNIVERSITY   (Japan)

Author keywords

Disulfiram; Menkes disease; Occipital horn syndrome

Indexed keywords

ADRENALIN; CERULOPLASMIN; COPPER; DISULFIRAM; DOPAMINE; DOPAMINE BETA MONOOXYGENASE; HISTIDINE; MENKES PROTEIN;

ABSENCE OF SIDE EFFECTS; ADRENALIN BLOOD LEVEL; ADULT; ARTICLE; BEHAVIOR; CAREGIVER; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CHILD; COPPER BLOOD LEVEL; COPPER DEFICIENCY; DOPAMINE BLOOD LEVEL; DRUG DOSE INCREASE; DRUG EFFECT; EMOTIONALITY; ENZYME ACTIVITY; GENETIC DISORDER; HUMAN; LOW DRUG DOSE; MALE; MENKES SYNDROME; OCCIPITAL HORN SYNDROME; PRIORITY JOURNAL; PROTEIN DEFECT; TREATMENT RESPONSE;

ADOLESCENT; ADULT; CERULOPLASMIN; COPPER; CUTIS LAXA; DISULFIRAM; DOPAMINE; EHLERS-DANLOS SYNDROME; HUMANS; MALE; MENKES KINKY HAIR SYNDROME; NOREPINEPHRINE; VANILMANDELIC ACID; YOUNG ADULT;

EID: 84862522919     PISSN: 0946672X     EISSN: 18783252     Source Type: Journal    
DOI: 10.1016/j.jtemb.2012.04.017     Document Type: Article

References (7)

1. Kodama H., Fujisawa C., Bhadhprasit W. Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment. Curr Drug Metab 2012, 13:237-250.
2. Kaler S.G., Holmes C.S., Goldstein D.S., Tang J., Godwin S.C., Donsante A., et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 2008, 358:605-614.
3. Tanaka K., Kobayashi K., Fujita Y., Fukuhara C., Onosaka S., Min K. Effects of chelators on copper therapy of macular mouse, a model animal of Menkes' kinky disease. Res Commun Chem Pathol Pharmacol 1990, 69:217-227.
4. Kodama H., Gu Y.-H., Shiga K., Fujisawa C., Kozuma T. Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease. J Inherit Metab Dis 2005, 28:971-978.
5. Mogensen M., Skjørringe T., Kodama H., Silver K., Horn N., Møller L.B. Exon duplications in the ATP7A gene: frequency and transcriptional behaviour. Orphanet J Rare Dis 2011, 6:73.
6. Gu Y.-H., Kodama H., Murata Y., Mochizuki D., Yanagawa Y., Ushijima H., et al. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am J Med Genet 2001, 99:217-222.
7. Møller L.B., TuEmer Z., Lund C., Petersen C., Cole T., Hanusch R., et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet 2000, 66:1211-1220.