223 top medical experts on Menkes Kinky Hair Syndrome across 30 countries and 15 U.S. states, including 47 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Menkes Kinky Hair Syndrome: 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)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Hair Diseases (3,768), Inborn Errors Metal Metabolism (445), Inborn Metabolic Brain Diseases (1,358), X-Linked Mental Retardation (2,803).
  4. Clinical Trials ClinicalTrials.gov : at least 5 including 2 Completed, 1 Recruiting
  5. Synonyms: Congenital Hypocupremia,  Kinky Hair Syndrome,  Menkes Syndrome,  Steely Hair Syndrome


  

        

                    


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