Menkes disease

Jump to navigation Jump to search
Menkes disease
ICD-10 E83.0
ICD-9 759.89
OMIM 309400
DiseasesDB 8029
MeSH D007706

WikiDoc Resources for Menkes disease


Most recent articles on Menkes disease

Most cited articles on Menkes disease

Review articles on Menkes disease

Articles on Menkes disease in N Eng J Med, Lancet, BMJ


Powerpoint slides on Menkes disease

Images of Menkes disease

Photos of Menkes disease

Podcasts & MP3s on Menkes disease

Videos on Menkes disease

Evidence Based Medicine

Cochrane Collaboration on Menkes disease

Bandolier on Menkes disease

TRIP on Menkes disease

Clinical Trials

Ongoing Trials on Menkes disease at Clinical

Trial results on Menkes disease

Clinical Trials on Menkes disease at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Menkes disease

NICE Guidance on Menkes disease


FDA on Menkes disease

CDC on Menkes disease


Books on Menkes disease


Menkes disease in the news

Be alerted to news on Menkes disease

News trends on Menkes disease


Blogs on Menkes disease


Definitions of Menkes disease

Patient Resources / Community

Patient resources on Menkes disease

Discussion groups on Menkes disease

Patient Handouts on Menkes disease

Directions to Hospitals Treating Menkes disease

Risk calculators and risk factors for Menkes disease

Healthcare Provider Resources

Symptoms of Menkes disease

Causes & Risk Factors for Menkes disease

Diagnostic studies for Menkes disease

Treatment of Menkes disease

Continuing Medical Education (CME)

CME Programs on Menkes disease


Menkes disease en Espanol

Menkes disease en Francais


Menkes disease in the Marketplace

Patents on Menkes disease

Experimental / Informatics

List of terms related to Menkes disease

For patient information click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Menkes disease (also called the kinky hair disease or Menkes kinky hair syndrome) is a disorder that affects copper levels in the body. It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Onset of Menkes syndrome typically begins during infancy. Signs and symptoms of this disorder include weak muscle tone (hypotonia), sagging facial features, seizures, mental retardation, and developmental delay. The patients have brittle hair and metaphyseal widening. In rare cases, symptoms begin later in childhood and are less severe. It is a X-linked recessive disorder, and is therefore considerably more common in males: females require two defective alleles to develop the disease.

It was originally described by Menkes et al in 1962.[1]

Occipital horn syndrome (sometimes called X-linked cutis laxa), is a mild form of Menkes syndrome that begins in early to middle childhood. It is characterized by calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose skin and joints.


The estimated incidence of Menkes disease is between 1 in 30,000 and 1 in 250,000.


Mutations in the ATP7A gene cause Menkes syndrome.[2] As the result of a mutation in the ATP7A gene, copper is poorly distributed to cells in the body. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels and the nervous system.

This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome (one of the two sex chromosomes). In males, who have only one X chromosome, one altered copy of the gene in each cell is sufficient to cause the condition. In females, who have two X chromosomes, a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

About one-third of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.


Affected infants may be born prematurely. Symptoms appear during infancy and are largely a result of abnormal intestinal copper absorption with secondary deficiency in copper-dependent mitochonrial enzymes. Normal or slightly slowed development may proceed for 2 to 3 months, and then there will be severe developmental delay and a loss of early developmental skills. Menkes Disease is also characterized by seizures, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is kinky, colorless or steel-colored, and easily broken. There can be extensive neurodegeneration in the gray matter of the brain.[3] Arteries in the brain can also be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.


The prognosis for individuals with Menkes disease is poor. Most children with Menkes Disease die within the first decade of life.


Early treatment with subcutaneous (under the skin) or intravenous (in a vein) injections of copper supplements (in the form of acetate salts) may be of some benefit. Other treatment is symptomatic and supportive.


  1. MENKES JH, ALTER M, STEIGLEDER GK, WEAKLEY DR, SUNG JH (1962). "A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration". Pediatrics. 29: 764–79. PMID 14472668.
  2. Voskoboinik I, Camakaris J (2002). "Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease". J Bioenerg Biomembr. 34 (5): 363–71. PMID 12539963.
  3. Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum". J Biol Chem. 280 (10): 9640–5. PMID 15634671.

Template:Endocrine, nutritional and metabolic pathology


Template:WikiDoc Sources