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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; Kinky Hair Disease; Menkes' Disease; Steely Hair Disease; Congenital Hypocupremias; Disease, Steely Hair; Diseases, Kinky Hair; Diseases, Menkes'; Diseases, Steely Hair; Hair Diseases, Kinky; Hair Diseases, Steely; Hypocupremias, Congenital; Kinky Hair Diseases; Menkes' Diseases; Steely Hair Diseases; Steely Hair Syndromes; Syndrome, Steely Hair; Syndromes, Steely Hair
Networked: 599 relevant articles (7 outcomes, 38 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Oculocutaneous Albinism (Albinism, Yellow Mutant)
2. Neurofibromatoses (Neurofibromatosis)
3. Exfoliative Dermatitis (Erythroderma)
4. Hepatolenticular Degeneration (Wilson's Disease)
5. Menkes Kinky Hair Syndrome (Menkes Disease)

Experts

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)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Menkes Kinky Hair Syndrome:
1. CopperIBA
2. Dopamine beta hydroxylase deficiencyIBA
3. TocopherolsFDA Link
4. Monophenol Monooxygenase (Tyrosinase)IBA
5. Pyruvaldehyde (Methylglyoxal)IBA
6. Pyridoxine (Pyridoxin)FDA LinkGeneric
7. Niacin (Nicotinic Acid)FDA LinkGeneric
8. Adenosine Triphosphatases (ATPase)IBA
9. Proteins (Proteins, Gene)IBA
10. Protons (Proton)IBA

Therapies and Procedures

1. Chelation Therapy (Therapy, Chelation)
2. Therapeutics
3. Injections
4. Anesthesia
5. Airway Management