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genetic disorder causing copper deficiency, leading to kinky hair

Menkes Disease, also known as Menkes Kinky Hair Syndrome, is a rare genetic disorder that affects copper levels in the body, leading to severe developmental issues. It is characterized by sparse, kinky hair, growth failure, and deterioration of the nervous system. The disease is caused by mutations in the ATP7A gene, which is responsible for regulating copper transport. Early diagnosis and treatment with copper injections can improve outcomes, but the prognosis is generally poor.

Related Terms

• Corkscrew Hairs
• Serum Copper
• Copper Metabolism