USMLE (Fach) / Biochemistry - Genetics (Lektion)

Vorderseite Menkes disease
Rückseite

- X-linked recessive

- mutation in the gene ATP7A, which encodes an ATP-dependent copper efflux protein in the intestine--> copper cannot be transported into the bloodstream, ↓ serum copper

- Lysyl oxidase requires copper and plays a direct role in the cross-linking of collagen fibrils- Dopamine- β-hydroxylase requires copper --> ↑ dopamine, ↓ noradrenalin levels

Presentation:- kinky hair- growth failure- elongation and tortuosity of major arteries- hypopigmented irises

Diese Karteikarte wurde von estoffel erstellt.