Menkes kinky hair syndrome

Alternative names
Steely hair disease; Menkes syndrome; Kinky hair disease

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  
  • Floppy baby (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 and 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  
  • Plasma amino acids may show elevated glutamate  
  • 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 histidinate

Support Groups
Corporation for Menkes Disease
5720 Buckfield Court
Fort Wayne, IN 46804
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.

Johns Hopkins patient information

Last revised: December 7, 2012
by Sharon M. Smith, M.D.

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