[Menkes disease].
The Menkes or kinky hair disease is a rare, sex-linked systemic disorder of the copper metabolism. It is lethal in the first three years due to cerebral and cerebellar degeneration. Apropos of their case the authors summarise the knowledge on the diagnosis, pathogenesis and therapy.
Borsod-Abaúj-Zemplén Megyei Kórház-Rendelöintézet, Miskolc.
R
R
Simkó
B
B
Lombay
I
I
Velkey
A
A
Kiss
A
A
Gyurcsik
K
K
Váradi
K
K
Nagy
D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D014695:Cerebral Ventriculography; D003300:Copper / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D014057:Tomography, X-Ray Computed
D003300:Copper
A Menkes-betegség.