Menkes disease

Menkes disease
ICD-10	E83.0
ICD-9	759.89
OMIM	309400
DiseasesDB	8029
eMedicine	neuro/569  ped/1417 derm/715
MeSH	D007706

WikiDoc Resources for Menkes disease
Articles
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
Media
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 Trials.gov 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 NHS PRODIGY Guidance FDA on Menkes disease CDC on Menkes disease
Books
Books on Menkes disease
News
Menkes disease in the news Be alerted to news on Menkes disease News trends on Menkes disease
Commentary
Blogs on Menkes disease
Definitions
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
International
Menkes disease en Espanol Menkes disease en Francais
Business
Menkes disease in the Marketplace Patents on Menkes disease
Experimental / Informatics
List of terms related to Menkes disease

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

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Overview

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.

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.

Epidemiology

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

Symptoms

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. 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.

Prognosis

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

Treatment

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.

Genetics

Mutations in the ATP7A gene cause Menkes syndrome. 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.

External links

• Beth Israel Deaconess Medical Center: Menkes disease

References

Template:WikiDoc Sources