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: EC:1.16.3.1 (
ceruloplasmin
)
5,074
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Changes in the metabolism of copper and zinc are described in
aspartylglycosaminuria
(
AGU
) patients.
AGU
patients had significantly reduced serum zinc concentrations. However, hair zinc levels were normal, and hyperzincuria could not be demonstrated. The copper content in the hair of
AGU
patients was highly elevated. Serum copper and
ceruloplasmin
concentrations were within normal range. In
AGU
, small-molecular-weight glycoasparagine storage products accumulate in tissues and are excreted in urine in large amounts. They may interfere with the transport mechanisms of trace elements, and thus alter their distribution and availability for tissues. The changes in copper and zinc levels may contribute to the pathogenesis of some of the clinical signs of
AGU
and Salla disease.
...
PMID:Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. 401 78
