Menkes syndrome

Definition

Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.

Causes, incidence, and risk factors

Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.

Symptoms

• Pudgy, rosy cheeks
• Lack of muscle tone, floppiness (hypotonia )
• Irritability
• Seizures
• Brittle, kinky hair
• Feeding difficulties
• Low body temperature
• Bone spurs

Signs and tests

There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal.

The following tests may help diagnose the condition:

• X-ray of the skeleton or x-ray of the skull may show abnormal bone appearance (Wormian bones, metaphyseal widening)
• Serum copper level may be low
• Copper level in cultured skin cells (fibroblasts) is elevated up to 5 times normal level
• Serum ceruloplasmin level may be low
• Microscope examination of the hair may show breaks at regular intervals
• Genetic testing may show mutation in the ATP7A gene

Treatment

Injection of copper has been used with mixed results. Present therapy consists of:

• Copper acetate administered into a vein (intravenously)
• Subcutaneous (injected under the skin) copper histidine

Support Groups

Corporation for Menkes Disease -- 219-436-0137

Expectations (prognosis)

Menkes is a serious disorder, with early death being common.

Complications

Seizures, abnormally light pigmentation of the skin and hair. Death usually occurs in the first few years of life.

Calling your health care provider

Consult with your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.

Prevention

Genetic counseling is recommended for prospective parents with a family history of Menkes syndrome. Evaluation by a geneticist is recommended for maternal relatives of an affected boy to determine genetic risks and carrier status.

Illustrations

Hypotonia

Page Content:

Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease ; kinky hair disease