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Variability in clinical expression of Menkes syndrome
A M Gerdes1, T Tønnesen, E Pergament
1John F. Kennedy Institute, Glostrup, Denmark.
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.
Insights
This study describes Menkes syndrome patients with longer survival and milder symptoms, suggesting two potential subgroups: severely affected with long survival and mildly affected with late onset. Further research into copper therapy is warranted.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Menkes syndrome is a rare genetic disorder affecting copper metabolism.
- Classical Menkes syndrome presents with severe symptoms and short survival.
- A subset of patients exhibits atypical, milder phenotypes with prolonged survival.