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Condition

Menkes Disease

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Menkes Disease?

Menkes disease is an inherited disorder in which the body has a problem absorbing copper. The disease affects development, both mental and physical.

What are the alternative names for Menkes Disease?

Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease; Copper transport disease; Trichopoliodystrophy; X-linked copper deficiency

What are the causes for Menkes Disease?

Menkes disease is caused by a defect in the ATP7A gene. The defect makes it hard for the body to properly distribute (transport) copper throughout the body. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys. A low copper level can affect the structure of bone, skin, hair, and blood vessels, and interfere with nerve function.

Menkes syndrome is usually inherited, which means it runs in families. The gene is on the X-chromosome, so if a mother carries the defective gene, each of her sons has a 50% (1 in 2) chance of developing the disease, and 50% of her daughters will be a carrier of the disease. This kind of gene inheritance is called X-linked recessive.

In some people, the disease is not inherited. Instead, the gene defect is present at the time the baby is conceived.

What are the symptoms for Menkes Disease?

Common symptoms of Menkes disease in infants are:

  • Brittle, kinky, steely, sparse, or tangled hair
  • Pudgy, rosy cheeks, sagging facial skin
  • Feeding difficulties
  • Irritability
  • Lack of muscle tone, floppiness
  • Low body temperature
  • Intellectual disability and developmental delay
  • Seizures
  • Skeletal changes

What are the current treatments for Menkes Disease?

Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results and depends on whether the ATP7A gene still has some activity.

What are the support groups for Menkes Disease?

These resources can provide more information on Menkes syndrome:

  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/menkes-disease
  • NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/menkes-syndrome

What is the outlook (prognosis) for Menkes Disease?

Most children with this disease die within the first few years of life.

When should I contact a medical professional for Menkes Disease?

Talk to 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.

How do I prevent Menkes Disease?

See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives (relatives on the mother's side of the family) of a boy with this syndrome should be seen by a geneticist to find out if they are carriers.

Hypotonia

REFERENCES

Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah, SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617.

Turnpenny PD, Ellard S. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, eds. Emery's Elements of Medical Genetics. 15th ed. Philadelphia, PA: Elsevier; 2017:chap 18.

Latest Research

Latest Advance
Study
  • Condition: Wilson Disease
  • Journal: Rinsho shinkeigaku = Clinical neurology
  • Treatment Used: D-Penicillamine or Trientine
  • Number of Patients: 0
  • Published —
This article describes how to diagnose and treat Wilson disease.
Latest Advance
Study
  • Condition: Menkes disease
  • Journal: Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)
  • Treatment Used: Weekly intravenous copper therapy
  • Number of Patients: 1
  • Published —
The aim of the study was to report the outcomes of a case of Menkes disease.

Clinical Trials

Clinical Trial
Drug
  • Status: Enrolling by invitation
  • Study Type: Drug
  • Participants: 50
  • Start Date: December 1, 2019
Long Term Follow-Up and Collection of Historical Control Data on Menkes Disease Patients
Clinical Trial
Drug
  • Status: Active, not recruiting
  • Study Type: Drug
  • Participants: 93
  • Start Date: February 27, 2009
Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency