USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Menkes disease
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- 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
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