Una malattia metabolica ereditaria dovuta all'alterazione dell'omeostasi cellulare degli ioni rame.
Conosciuto anche come
copper Transport disorders; inborn cellular copper ion homeostasis disorder; inborn error of cellular copper ion homeostasis; rare inborn error of cellular copper ion homeostasis
Include 6 sottotipi correlati ↓Nascondi i sottotipi ↑
- autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
- familial benign copper deficiency
- MEDNIK syndrome
- Menkes disease
- occipital horn syndrome
- Wilson disease
