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2010•Journal of Molecular Diagnostics and TherapyRequires access

The progress in Menkes disease research

Yanhua Deng

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Abstract

Menkes disease (MD) is an X-linked recessive disorder of copper metabolism. It is caused by mutations in the ATP7A gene encoding a copper-translocating P-type ATPase. Since Menkes first described the disease, many scholars developed the study of Menkes disease. This paper mainly reviews the etiology, clinical features, molecular genetics, diagnosis and treatment of Menkes disease.

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What this paper is about

Menkes disease (MD) is an X-linked recessive disorder of copper metabolism. It is caused by mutations in the ATP7A gene encoding a copper-translocating P-type ATPase. Since Menkes first described the disease, many scholars developed the study of Menkes disease. This paper mainly reviews the etiology, clinical features, molecular genetics, diagnosis and treatment of Menkes disease.

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Available abstract

Menkes disease (MD) is an X-linked recessive disorder of copper metabolism. It is caused by mutations in the ATP7A gene encoding a copper-translocating P-type ATPase. Since Menkes first described the disease, many scholars developed the study of Menkes disease. This paper mainly reviews the etiology, clinical features, molecular genetics, diagnosis and treatment of Menkes disease.

Key concepts: Menkes disease, ATP7A, Copper metabolism, Disease, Etiology, Medicine, Biology, Genetics

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