Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0022716 (
Menkes
)
1,057
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The pathogenesis of
Menkes disease
seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with
Menkes disease
by giving vitamin C orally. The clinical manifestation and bone changes improved and the plasma copper and ceruloplasmin levels gradually increased.
Vitamin C
may prevent the binding of copper and metallothionein by its reducing effect, and excess copper would be released from the cells.
Vitamin C
treatment is a simple and physiological method, and should aid in clarifying the pathogenesis of the disease.
...
PMID:Menkes disease: is vitamin C treatment effective? 408 90
