O boală metabolică ereditară care are la bază perturbarea homeostaziei ionilor de cupru din celule.
Denumită și
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 subtipuri înrudite ↓Ascunde subtipurile ↑
- 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
