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Menkes Kinky Hair Syndrome (Menkes Disease)

An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
Also Known As:
Menkes Disease; Kinky Hair Syndrome; Hypocupremia, Congenital; Menkes Syndrome; Steely Hair Syndrome; Congenital Hypocupremia; Copper Transport Disease; Kinky Hair Disease; Menkea Syndrome; Menkes' Disease; Steely Hair Disease; X-Linked Copper Deficiency; Congenital Hypocupremias; Copper Deficiencies, X-Linked; Copper Deficiency, X-Linked; Copper Transport Diseases; Deficiencies, X-Linked Copper; Deficiency, X-Linked Copper; Disease, Copper Transport; Disease, Steely Hair; Diseases, Copper Transport; Diseases, Kinky Hair; Diseases, Menkes'; Diseases, Steely Hair; Hair Diseases, Kinky; Hair Diseases, Steely; Hypocupremias, Congenital; Kinky Hair Diseases; Menkea Syndromes; Menkes' Diseases; Steely Hair Diseases; Steely Hair Syndromes; Syndrome, Menkea; Syndrome, Steely Hair; Syndromes, Menkea; Syndromes, Steely Hair; Transport Disease, Copper; Transport Diseases, Copper; X Linked Copper Deficiency; X-Linked Copper Deficiencies
Networked: 729 relevant articles (14 outcomes, 47 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Oculocutaneous Albinism (Albinism, Yellow Mutant)
2. dopamine beta hydroxylase deficiency
3. Neurofibromatoses (Neurofibromatosis)
4. Exfoliative Dermatitis (Erythroderma)
5. Hepatolenticular Degeneration (Wilson's Disease)

Experts

1. Kaler, Stephen G: 32 articles (09/2020 - 01/2002)
2. Kodama, Hiroko: 24 articles (08/2021 - 10/2001)
3. Petris, Michael J: 14 articles (01/2020 - 11/2002)
4. Møller, Lisbeth Birk: 11 articles (01/2021 - 01/2004)
5. Mercer, Julian F B: 11 articles (04/2016 - 04/2002)
6. Gitlin, Jonathan D: 10 articles (11/2015 - 01/2005)
7. Horn, Nina: 8 articles (04/2021 - 12/2003)
8. Yi, Ling: 8 articles (09/2020 - 12/2011)
9. Lenartowicz, MaƂgorzata: 8 articles (01/2017 - 01/2004)
10. Donsante, Anthony: 8 articles (02/2013 - 02/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Menkes Kinky Hair Syndrome:
1. CopperIBA
2. Proteins (Proteins, Gene)FDA Link
3. elesclomolIBA
4. Chelating AgentsIBA
11/07/2018 - "Notably, the chelators afford significant reduction in Cu-induced oxidative damage in Atp7a-/- Menkes disease model cells that have endogenously high levels of Cu ions. "
08/01/1990 - "Effects of chelators on the copper(Cu) therapy for the mutant mouse, Macular, which is a model animal of Menkes' disease were studied. "
01/01/2019 - "In Menkes disease mice, the in vivo effect is mostly due to diminished neutrophil infiltration of the liver as unmutated mice with a subchronic copper deficiency release even more NETs than their controls during endotoxemia, whereas in Wilson disease mice, excess copper directly diminishes the capacity to release NETs, and this was further confirmed by ex vivo studies on isolated neutrophils co-cultured with exogenous copper and a copper-chelating agent. "
01/01/2020 - "Diagnosis of Wilson's disease was established in both patients using a diagnostic scoring system proposed by "8th International Meeting on Wilson Disease and Menkes Disease, Leipzig (2001)." Treatment with D-penicillamine as a chelator and zinc sulphate as a metalothionein-inductor was started. "
01/01/2020 - "For these reasons, the following clinically approved copper chelators are being repurposed as anti-cancer agents: a) ammonium tetrathiomolybdate (TTM) used to treat Wilson's disease (copper overload) and Menkes disease (copper deficiency); b) Disulfiram (DSF), used against alcoholism, since it inhibits Aldehyde Dehydrogenase (ALDH1) enzyme, important in ethanol detoxification, and a key target against cancer stem cells. "
5. Copper Transport ProteinsIBA
6. IonsIBA
7. Pharmaceutical PreparationsIBA
8. alpha-TocopherolFDA Link
9. Monophenol Monooxygenase (Tyrosinase)IBA
10. Pyruvaldehyde (Methylglyoxal)IBA

Therapies and Procedures

1. Therapeutics
2. Oral Administration
3. Chelation Therapy (Therapy, Chelation)
4. Injections
5. Anesthesia