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Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease 

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

Chapter:
Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Author(s):

Michael L. Schilsky

and Pramod K. Mistry

DOI:
10.1093/med/9780199204854.003.120702

November 28, 2013: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

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date: 30 March 2017

Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described.

Wilson’s disease

An uncommon disorder (1 in 30 000) caused by autosomal recessive loss of function mutations in a metal-transporting P-type ATPase (ATP7B) that result in defective copper excretion into bile and hence copper toxicity. Typical presentation is in the second and third decade of life with liver disease (ranging from asymptomatic hepatomegaly to fulminant hepatic failure) or neuropsychiatric disorder (dystonia, dysarthria, Parkinsonian tremor, psychiatric). Kayser–Fleischer corneal rings may be seen. No single biochemical test or clinical finding is sufficient for establishing the diagnosis, but typical findings include low serum ceruloplasmin, high urinary copper excretion, and elevated liver copper content. Treatment is with copper chelating agents and zinc. Liver transplantation is required for fulminant hepatic failure and decompensated liver disease unresponsive to medical therapy.

Menkes’ disease

A rare disorder (1 in 300 000) caused by X-linked loss of function mutations in a P-type ATPase homologous to ATP7B (ATP7A) that result in defective copper transport across intestine, placenta and brain and hence cellular copper deficiency. Clinical presentation is in infancy with facial dimorphism, connective tissue disorder, hypopigmentation, abnormal hair, seizures and failure to thrive, usually followed by death by age 3 years. Treatment, which is only effective when presymptomatic diagnosis is made in a sibling after florid presentation in a previous affected sibling, is with intravenous copper histidine.

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