- Menkes' disease
- Men·kes' disease 'meŋ-kəz-, -kə-səz- n a disorder of copper metabolism that is inherited as a recessive X-linked trait and is characterized by a deficiency of copper in the liver and of copper-containing proteins (as ceruloplasmin) which results in mental retardation, brittle kinky hair, and a fatal outcome early in life called also Menkes' syndromeMen·kes 'meŋ-kəs John Hans (b 1928)American (Austrian-born) pediatric neurologist. For most of his career Menkes was affiliated with the medical school of the University of California-Los Angeles, where over the course of more than two decades starting in 1966, he held a number of professorships in pediatrics, neurology, and psychiatry. In 1997 he was named director of pediatric neurology at Los Angeles' Cedars-Sinai Medical Center. His writings included the fifth edition of Textbook of Child Neurology (1995) and numerous articles in pediatric and neurological journals. Notable was his description in 1954 of a progressive familial infantile cerebral dysfunction that is marked by urine with the distinctive odor of maple syrup. Equally notable was his description in 1962 of a hereditary disorder of copper metabolism that has kinky hair as a distinctive feature. This disorder of copper metabolism is commonly known as Menkes' disease or Menkes' syndrome. Menkes was also the author of several plays, screenplays, and novels.
Medical dictionary. 2011.