Svensk definition
En ärftlig, X-kromosombunden störning i kopparmetabolismen. Tillståndet kännetecknas av hypotermi redan från barndomen, ätsvårigheter, lågt blodtryck, krampanfall, benvävnadsmissbildningar, pili torti (vridna hår) och starkt försämrad mental utveckling. Funktionsstörningar i koppartransporten genom plasmamembran och membran i det endoplasmatiska nätverket leder till brist på koppar för syntesen av ett flertal kopparhaltiga enzym, däribland protein-lysin 6-oxidas, ceruloplasmin och superoxiddismutas. Patologiska förändringar omfattar bl a defekter i artärelastin, förlust av nervceller och glios.
Engelsk definition
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)
Svenska synonymer
Kinky hair-syndrom — Menkes syndrom
Engelska synonymer
Menkes Syndrome — Steely Hair Syndrome — Steely Hair Syndromes — Syndrome, Steely Hair — Syndromes, Steely Hair — Hypocupremia, Congenital — Congenital Hypocupremias — Hypocupremias, Congenital — Congenital Hypocupremia — X-Linked Copper Deficiency — Copper Deficiencies, X-Linked — Copper Deficiency, X-Linked — Deficiencies, X-Linked Copper — Deficiency, X-Linked Copper — X Linked Copper Deficiency — X-Linked Copper Deficiencies — Menkes Disease — Menkes' Disease — Diseases, Menkes' — Menkes' Diseases — Steely Hair Disease — Disease, Steely Hair — Diseases, Steely Hair — Hair Diseases, Steely — Steely Hair Diseases — Menkea Syndrome — Menkea Syndromes — Syndrome, Menkea — Syndromes, Menkea — Copper Transport Disease — Copper Transport Diseases — Disease, Copper Transport — Diseases, Copper Transport — Transport Disease, Copper — Transport Diseases, Copper — Kinky Hair Syndrome — Kinky Hair Disease — Diseases, Kinky Hair — Hair Diseases, Kinky — Kinky Hair Diseases