Menkes disease

Last updated on 05-01-20

How is Menkes disease diagnosed?

The early diagnosis is suspected with the signs and symptoms (especially typical hair changes) and reduced levels of copper and ceruloplasmin in the blood. However, reduced levels are also seen in healthy newborns. Therefore, analysis of catecholamines in blood (which are low because of a deficiency in dopamine beta-hydroxylase (DBH), an enzyme that depends on copper’s activity) is one of the fastest diagnostic tests. X-rays show changes in the bones (osteoporosis), widening of the middle part of the bones (metafises), long bone spurs, diaphysis periosteal reaction (a radiological sign), thickening and swelling around of the wormian bones in the cranial sutures (joints of the skull bones). The diagnosis is confirmed by genetic testing showing the ATP7A gene mutation. Early treatment can improve the prognosis.

Last updated on 05-01-20

Last updated on 05-01-20

What is the prognosis for Menkes disease?

Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. In general, the prognosis for babies with Menkes disease is poor.

The major problems in Menkes disease involve the neurologic, gastrointestinal, and connective tissue (including blood vessels) systems. Pneumonia, leading to respiratory failure, is a common cause of death, although some patients with Menkes disease die suddenly in the absence of any apparent acute medical problem.

The majority of children with Menkes disease die within the first decade of life (many by age 3 years), but early treatment with copper within the first few months of life appears to be effective in increasing the life expectancy of some patients (from 3 to 13 years of age or more). Also, when treatment is started very early, especially during the first 10 days of life, it may result in improved neurological outcomes. Several investigations are ongoing to find more effective treatments.

Last updated on 05-01-20

Last updated on 05-01-20

How might Menkes disease be treated?

Treatment is based on the symptoms. It may include inserting a tube through a small opening in the abdomen that delivers nutrition directly to the stomach (gastrostomy tube or G-tube) to ensure an adequate nutrition. Some people who have pouches in the bladder (bladder diverticulum) may need surgery.

Early administration of copper may extend the patient’s life and can prevent neurologic damage in some patients (about 30% of cases) or improve the symptoms when it is started very early. The copper is administrated (as copper histidine or copper chloride) into a vein (intravenous (IV)), or by injecting it under the skin (subcutaneous) because when it is given by mouth it is not absorbed by the intestines. Some studies have shown that if copper administration starts before 10 days of life in certain cases there are no neurological problems. Also, the treatment may also result in fewer seizures and less irritability. Other treatment may include:

  • Penicillamine: To avoid excess of copper during the treatment
  • Vitamin C: It may increase the effectiveness of the copper treatment but there is no real evidence of being effective
  • Vitamin E: It has been suggested as a treatment perhaps by its antioxidant property
  • Insertion of genetic material (DNA) of the normal gene directly into the brain, using virus carrying the DNA (viral gene therapy). This type of treatment is still in research
  • L-threo-dihydroxyphenylserine (L-DOPS): Results in the improvement dopamine deficiency beta-hydroxylase (DBH) that is one of the enzymes impaired in the disease.
  • Developmental intervention

Several investigations are ongoing to find more effective treatments.

Last updated on 05-01-20

Where To Start

Climb - Menkes

[Children Living with Inherited Metabolic Diseases (CLIMB)]( has a Web page with information about Menkes disease and other metabolic disorders. Click on the link above to view the information page.

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: Url:
Name: American Dietetic Association 120 South Riverside Plaza, Suite 2000
Chicago, IL, 60606-6995, United States
Toll Free: 800-366-1655 Email: Url:
Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease Mol Genet Metab. Jan 2019; 126(1). 6-13. Reference Link Caicedo-Herrara G, Candelo E, Pinilla J, Vidal A, Cruz S, Pachajoa HM. Novel ATP7A gene mutation in a patient with Menkes disease Appl Clin Genet. Nov 22, 2018; 11. 151-155. Reference Link Kim MY, Kim JH ,Cho MH ,Choi YH, Kim SH, Im YJ, et al. Urological Problems in Patients with Menkes Disease J Korean Med Sci. Jan 7, 2019; 34(1). e4. Reference Link Kaler S. ATP7A-Related Copper Transport Disorders GeneReviews. updated Aug. 18, 2016; Reference Link

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