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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, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.

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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