|1.||Oculocutaneous Albinism (Albinism, Yellow Mutant)
|3.||Exfoliative Dermatitis (Erythroderma)
|4.||Hepatolenticular Degeneration (Wilson's Disease)
|5.||Menkes Kinky Hair Syndrome (Menkes Disease)
|1.||Kaler, Stephen G: 31 articles (05/2015 - 01/2002)|
|2.||Kodama, Hiroko: 18 articles (01/2015 - 05/2002)|
|3.||Mercer, Julian F B: 11 articles (05/2014 - 04/2002)|
|4.||Gitlin, Jonathan D: 10 articles (11/2015 - 01/2005)|
|5.||Petris, Michael J: 10 articles (11/2015 - 11/2002)|
|6.||Donsante, Anthony: 10 articles (02/2013 - 08/2007)|
|7.||Møller, Lisbeth Birk: 9 articles (07/2015 - 01/2004)|
|8.||Goldstein, David S: 7 articles (01/2015 - 08/2007)|
|9.||Horn, Nina: 7 articles (01/2011 - 12/2003)|
|10.||Yi, Ling: 6 articles (05/2015 - 12/2011)|
01/01/1993 - "Thus the effective treatment of Menkes disease could possibly be to release trapped copper from the blood vessels and glia into the neurons."
01/01/2012 - "The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression."
08/01/2008 - "We present a case of an inherited disorder of copper metabolism, Menkes disease in which MRI studies revealed the coexistence of T2 hypersignal in the temporal white matter with an increase of apparent diffusion coefficient indicative of vasogenic oedema combined with T2 hypersignal of the putamen and head of the caudate and decreased apparent diffusion coefficient indicative of cytotoxic oedema. "
05/01/2007 - "Future trials of direct CNS copper administration in mouse models of Menkes disease will be informative."
05/01/2007 - "Based on estimates of the brain copper deficit in Menkes disease patients, CuHis doses 10-fold lower than the MTD found in this study may restore proper brain copper concentration. "
|2.||Dopamine beta hydroxylase deficiencyIBA
02/01/2013 - "In a well-established mouse model of Menkes disease, mottled-brindled (mo-br), we tested whether systemic administration of L-threo-dihydroxyphenylserine (L-DOPS), a drug used successfully to treat autosomal recessive norepinephrine deficiency, would improve brain neurochemical abnormalities and neuropathology. "
02/01/2013 - "We conclude that (1) L-DOPS crosses the blood-brain barrier in mo-br mice and corrects brain neurochemical abnormalities, (2) norepinephrine deficiency is not the cause of neurodegeneration in mo-br mice, and (3) L-DOPS treatment may ameliorate noradrenergic hypofunction in Menkes disease."
02/05/2003 - "We screened for ATOX1 mutations in two patients with classical Menkes disease phenotypes and one individual with occipital horn syndrome who had no alterations detected in ATP7A, as well as an adult female with chronic anemia, low serum copper and evidence of mild dopamine-beta-hydroxylase deficiency and no alterations in the ATOX1 coding or splice junction sequences were found. "
|4.||Monophenol Monooxygenase (Tyrosinase)IBA
01/01/1995 - "This method has already been shown to be effective in recessive dystrophic bullous epidermolysis, lethal Herlitz's junctional bullous epidermolysis, bullous ichthyosiform hereditary erythroderma, von Recklinghausen's neurofibromatosis, tyrosinase negative oculocutaneous albinism, Gorlin's syndrome, anhidrotic ectodermic dysplasia and Menkes disease. "
|6.||Pyridoxine (Pyridoxin)FDA LinkGeneric
|7.||Niacin (Nicotinic Acid)FDA LinkGeneric
|8.||Adenosine Triphosphatases (ATPase)IBA
09/15/2000 - "The transcript variant that is the focus of the present study codes for a 103-residue protein containing the first heavy-metal-binding domain (Hmb1) of ATP7A, the Cu-ATPase associated with Menkes disease. "
11/02/1999 - "These studies implicate the N-terminal domain of Pmr1 in the modulation of ion transport, and may help elucidate the role of N-terminal metal-binding sites of Cu(2+)-ATPases, defective in Wilson and Menkes disease."
08/01/1998 - "This study provides strong evidence that a Cu-ATPase in the BBB controls the penetration of Cu into the brain and that lesions to the Cu-ATPase in CVE cells are a primary cause of low brain Cu levels in Menkes disease."
06/01/2010 - "This ATPase has attracted significant attention since the discovery of its mutation leading to human Menkes disease and the demonstration of its distribution in various tissues. "
08/22/2006 - "Finally, several mutations in the Wilson and Menkes disease ATPases occur in the A-domain, and their likely effects on function can be inferred from the CopA A-domain structure."
|9.||Proteins (Proteins, Gene)IBA
04/01/1996 - "The present and previous data indicate that the Menkes syndrome may involve several abnormalities in the expression of genes for connective tissue proteins."
08/12/2008 - "It is unclear how the human copper (Cu) chaperone Atox1 delivers Cu to metal-binding domains of Wilson and Menkes disease proteins in the cytoplasm. "
04/21/2006 - "CopA from Archaeoglobus fulgidus is a hyperthermophilic ATPase responsible for the cellular export of Cu+ and is a member of the heavy metal P1B-type ATPase subfamily, which includes the related Wilson and Menkes diseases proteins. "
01/01/2005 - "Immunoblotting for several proteins including ATP7A (MNK or Menkes protein), ATP7B (Wilson protein) and SOD1 showed normal results, implying a copper metabolism defect other than Wilson or Menkes disease. "
10/19/1999 - "Mutations in the human proteins cause disorders of copper metabolism known as Wilson and Menkes diseases. "
02/01/1994 - "Elemental microanalysis of fibroblasts by a scanning proton microprobe and application to Menkes' disease."
11/01/2000 - "Magnetic resonance studies, including diffusion-weighted imaging and proton magnetic resonance spectroscopy, demonstrated bilateral infarctions of deep gray matter nuclei, a finding not previously described in Menkes' disease. "
06/01/2005 - "The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study."
|1.||Chelation Therapy (Therapy, Chelation)
01/01/2015 - "Although early treatment with copper-histidine injections can improve outcomes, early diagnosis is difficult because the clinical features of Menkes disease are subtle or do not manifest in affected neonates. "
05/01/2014 - "[Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections]."
01/01/1995 - "Copper (Cu) distribution in various organs of brindled mice (BM), an animal model of Menkes disease, was studied histochemically and by atomic-absorption-spectrophotometry 7 months after Cu injections. "
10/01/2010 - "To assess the influence of earlier, presymptomatic diagnosis and treatment on seizure semiology and brain electrical activity, we evaluated 71 EEGs in 24 Menkes disease patients who were diagnosed and treated with copper injections in early infancy (≤6 weeks of age), and whose ATP7A mutations we determined. "
09/01/2005 - "We describe a child with classical Menkes disease with a novel ATP7A mutation, intractable seizures, severe hypotonia and developmental delay, hypopigmentation of the skin and hair, and failure to thrive, who was treated with daily subcutaneous copper histidine injections for 2(1/2) years, beginning at 15 months of age. "