Variability in clinical expression of Menkes syndrome.
Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups: one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.
Gerdes
A M
AM
John F. Kennedy Institute, Glostrup, Denmark.
Tønnesen
T
T
Pergament
E
E
Sander
C
C
Baerlocher
K E
KE
Wartha
R
R
Güttler
F
F
Horn
N
N
D001928:Brain Diseases, Metabolic / Q000235:genetics; D003300:Copper / Q000627:therapeutic use; D006801:Humans; D007231:Infant, Newborn; D007706:Menkes Kinky Hair Syndrome / Q000188:drug therapy / Q000235:genetics; D011379:Prognosis
D003300:Copper