Menkes' disease

Men·kes' disease

noun \ˈmeŋ-kəz-, -kə-səz-\

Definition of MENKES' DISEASE

: 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' syndrome

Biographical Note for MENKES' DISEASE

Men·kes \ˈmeŋ-kəs\ John Hans (born 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.