MeSH Descriptor
Source: MeSH 2021 deskriptory
Main Heading
Menkesova choroba
English Heading
Menkes Kinky Hair Syndrome
See
Menkesova nemoc
Menkesův syndrom
syndrom kinky hair
See
Kinky Hair Syndrome [T023132]
Menkes Syndrome [T023133]
Steely Hair Syndrome [T023134]
Hypocupremia, Congenital [T369449]
Congenital Hypocupremia [T369450]
Kinky Hair Disease [T369451]
Menkes Disease [T369452]
Menkes' Disease [T369453]
Steely Hair Disease [T369454]
Menkea Syndrome [T811681]
Copper Transport Disease [T841995]
X-Linked Copper Deficiency [T841996]
Related Descriptors
Preferred Concept
Mesh Scope Translators Note
Recesivně dědičná nemoc vázaná na X chromozom (Xq13.3); narušen je metabolismus mědi. Projevuje se neurodegenerativními změnami, křečovými záchvaty, mentálními poruchami apod. Nápadné jsou vlnité vlasy, ale jsou změny i v dalších tkáních. Mutován je gen pro transportní ATPázu podobnou enzymu, jehož mutace způsobuje Wilsonovu nemoc. Prognóza je vesměs nepříznivá. (cit. Velký lékařský slovník online, 2018 http://lekarske.slovniky.cz)
Scope Note
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)
History note
2000(1977)
Public Note
2000; see KINKY HAIR SYNDROME 1991-1999; see BRAIN DISEASES, METABOLIC 1977-1990
Record number
D007706
Persistent link
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