Menkes kinky hair syndrome

Menkes kinky hair syndrome (also known as Menkes disease) is a rare, X-linked recessive disorder that affects copper levels in the body, leading to copper deficiency. This condition primarily affects males.

Overview

Menkes kinky hair syndrome is a genetic disorder that affects the body's ability to absorb and distribute copper. The syndrome is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. It is caused by mutations in the ATP7A gene.

Symptoms

The symptoms of Menkes kinky hair syndrome typically appear in infancy and may include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. The hair is typically coarse, dry, and brittle, and is often described as "kinky" or "steely."

Genetics

Menkes kinky hair syndrome is caused by mutations in the ATP7A gene. This gene provides instructions for making a protein that is important for regulating copper levels in the body. The ATP7A protein transports copper into and out of cells and plays a key role in the function of several copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system.

Diagnosis

Diagnosis of Menkes kinky hair syndrome is based on clinical features, microscopic examination of the hair, and molecular genetic testing. The diagnosis can be confirmed by genetic testing to identify a mutation in the ATP7A gene.

Treatment

There is currently no cure for Menkes kinky hair syndrome. Treatment is symptomatic and supportive. Early treatment with copper injections may improve the prognosis in some cases.

Prognosis

The prognosis for individuals with Menkes kinky hair syndrome is poor. Most individuals with this condition do not survive past the first few years of life.

See also

• Copper metabolism
• ATP7A
• X-linked recessive inheritance

NIH genetic and rare disease info

• NIH info on Menkes kinky hair syndrome

Menkes kinky hair syndrome is a rare disease.

Menkes kinky hair syndrome Resources
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