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High nonceruloplasmin-bound serum copper

MedGen UID:
341229
Concept ID:
C1848459
Finding
HPO: HP:0010838

Definition

An increased concentration of non ceruloplasmin bound copper in the blood. [from HPO]

Term Hierarchy

Conditions with this feature

Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.

Recent clinical studies

Etiology

Araya M, Olivares M, Pizarro F, González M, Speisky H, Uauy R
Am J Clin Nutr 2003 Mar;77(3):646-50. doi: 10.1093/ajcn/77.3.646. PMID: 12600855

Therapy

Araya M, Olivares M, Pizarro F, González M, Speisky H, Uauy R
Am J Clin Nutr 2003 Mar;77(3):646-50. doi: 10.1093/ajcn/77.3.646. PMID: 12600855

Clinical prediction guides

Araya M, Olivares M, Pizarro F, González M, Speisky H, Uauy R
Am J Clin Nutr 2003 Mar;77(3):646-50. doi: 10.1093/ajcn/77.3.646. PMID: 12600855

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