Menkes disease – Low concentration of copper

Last Updated on March 14, 2023 by Dr. Saqib Mueed

What is Menkes Disease

The deficiency of copper causes a disease called Menkes Disease. When a very low level of copper is found in the body leads to Menkes Disease.

This disease was first proposed by John Hans Menkes in 1962. Males have more Disorders of Menkes than in females.   

This is the disease that is common in childhood or babyhood, it is a falling on about 1 in 100000 to 250000 new babies. This type of baby cannot live more than three years, In some cases, the symptoms of Menkes emerged after three years. [1]Menkes disease | European Journal of Human Genetics (

Characteristics of Menkes Disease

  • kinky hairs
  • Growth failures
  • nervous system disorders

Signs and symptoms of Menkes Disease

An affected baby may be born immaturely, symptoms of this prematurely appear during childhood, after two to three months of normal development which is caused by loss of early development and development have done after the proper time. [2]Menkes syndrome (


  • Patients possess weak muscles tone
  • Failure to blossom
  • Hypothermia (body temperature is below the standard temperature)
  • Sagging (hanging downward) facial appearance
  • Epilepsy is due to the presence of any toxins in the blood and also due to fever in children)

Causes of Menkes Disease

Chromosome number 21 has a gene ATP7A, MD is due to the change of this gene. This is a recessive disease also inherited genetically.

30 percent of Menkes disease is caused due to mutation and 70 percent is due to inhabitation which is mainly from the mother. The MD is commonly present in male children but females are always considered as the carrier of this disease.

The distribution of copper is poor in the cells of the body, due to mutation in the gene ATP7A. Due to the unequal distribution of copper, copper accumulates in some tissues which not need copper such as the small intestine and kidney, while the proper place of storage of copper is the brain and the tissues that are associated with the brain have less quantity of copper.

The enzymes that contain copper perform functions in the skin, skeleton, hairs,  and Nervous System.  Decreased their activity due to lower supply of copper also perform the main role in the structural composition.

The female children that are infected by female mothers have more chance to spread this disease than male children that are affected by this disease.

Mechanism of Menkes Disease

The gene ATP7A contains a protein called trans-protein, this trans-protein transports into cell membranes. This trans-protein is found everywhere in the body else in the liver.  In the small intestine absorption of copper from food is controlled by gene ATP7A.

For the maintenance of the concentration of copper in the cells, the ATP7A moves between the Golgi bodies or between the cell membrane. These Golgi Apparatus have a protein that has a function of changes in protein sequence and enzymes functioning.

Lysyl oxidase enzyme requires copper for its proper functioning.  This enzyme converts. These strong fibrils participate in various functions that this disease performs.

In the case of excessive copper levels, the ATP7A protein eliminates the excess amount of copper by traveling in the cell membrane.

Due to mutation in the gene ATP7A i.e Deletion (delete or missing of some part of a chromosome) and Insertion (addition of any gene on chromosome) can cause a shortage in ATP7A protein. The generation of the ATP7A gene stops working.

Diagnosis of Menkes Disease

The blood test for the level of copper in the blood is used for the diagnosis of Menkes disease. The hairs can also be examined in an optical microscope for the detection of disorders. Another method of diagnosis includes X-rays of the skeleton and skull.  [3]S8860N (

Treatment of Menkes Disease

Treatment of Menkes disease is the supplement of copper or injections which are in the form of acetate salts.

What is the cure for Menkes Disease?

This disease has no cure.

Reviewed by:

Dr. Akhtar Nawaz Lak

MBBS, FCPS (Internal Medicine)

Ex. Medical Specialist, Services hospital, Lahore

Ex. Medical Specialist, Allied hospital, Faisalabad

Our reviewers’ details, Click Here

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