Forstyrrelse i Kobberstofskiftet
En arvelig stofskiftesygdom, der har sit grundlag i en forstyrrelse af den cellulære homeostase for kobberioner.
Også kendt som
copper Transport disorders; inborn cellular copper ion homeostasis disorder; inborn error of cellular copper ion homeostasis; rare inborn error of cellular copper ion homeostasis
Omfatter 6 beslægtede undertyper ↓Skjul undertyper ↑
- 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
