| umls-concept:C0022716 | skos:definition | CSP: X-linked recessive abnormality in copper absorption marked by severe cerebral degeneration and arterial changes resulting in death in infancy and by sparse, brittle scalp hair.,JABL: An inherited defect of intestinal copper absorption in males It is characterized by sparse, stubby, twisted, and friable, and colorless hair and irregular eyebrows associated with retarded mental and physical development, focal cerebral and cerebellar degeneration, cherubic expressionless facies, and micrognathia. The course is usually progressively fatal.,MSH: 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 | lld:umls |
