title: Variability in clinical expression of Menkes syndrome.
abstract: 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.
authors.affiliation: John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: A M
authors.initials: AM
authors.lastname: Gerdes
authors.forename: T
authors.initials: T
authors.lastname: Tønnesen
authors.forename: E
authors.initials: E
authors.lastname: Pergament
authors.forename: C
authors.initials: C
authors.lastname: Sander
authors.forename: K E
authors.initials: KE
authors.lastname: Baerlocher
authors.forename: R
authors.initials: R
authors.lastname: Wartha
authors.forename: F
authors.initials: F
authors.lastname: Güttler
authors.forename: N
authors.initials: N
authors.lastname: Horn
mesh_terms: 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
chemical_list: D003300:Copper