Menkes Disease
General

Menkes Disease – Causes, Symptoms, Treatment, Life Expectancy

What Is Menkes Disease?

Menkes Disease is a genetic disorder in the body that affects the copper levels. This is a disease which is detectable before birth in the prenatal care. It progressively degenerates a path that involves several organs of the body but mainly the brain. This is mainly characterized by seizure, kinky, growth that has stunted, thriving failure, mental retardation, unstable body temperature, body color which is unusual.

This disease is associated with copper failure in transporting systems within the cell and across the cell membranes and this is responsible for the systems in this disorder. This disease is bound to be unavailable in cells since transportation failure in the system which is essential for the structure and various functioning of enzymes that control hair development, brain, bones, arteries and liver.

What Is Menkes Kinky Hair Disease?

Menkes kinky hair syndrome is an x-linked multisystem lethal disorder which is recessive of copper metabolism. Fine silvery wiry hair, doughy skin, progressive neurologic deterioration, connective tissue disturbance are the clinical phenotype marked.

In Menkes Kinky hair syndrome, copper transport to other tissues is affected but intestinal copper uptake by brush border cells is normal. This change alters the activities of copper-dependent metallic- enzymes.

Causes of Menkes Disease

Menkes disease is an x-linked genetic disorder caused by mutations ATP7A gene. This gene is responsible for the production of ATPase enzymes in the body that controls copper levels.

People who have this disorder are said to have low levels of copper in the brain and liver but they have excess copper in the kidneys and intestines. The body’s natural copper dependent enzymes fail always because copper as a key element in the structure and functioning may be not there.

Hypothermia is a caused by defective enzyme cytochrome-oxidase, hair pigmentation and skin is caused by defective enzyme tyrosinase, failure of connective tissue connecting strong inner walls of blood vessels is caused by defective enzyme lysyl oxidase. The substandard bone formation is caused by defective enzyme ascorbate oxidase, kinky hair is caused by defective enzymes monoamine oxidase.

Menkes disease is caused by a mutation in the ATP7A gene, less severe symptoms which include mild menkes disease. And Occipital Horn Syndrome linked genetic disorders are conditions caused by a gene mostly in men. That is abnormal on the x chromosome and females are carriers of the gene

Symptoms of Menkes Disease

  • Brittaled, tangled, sparse steel or Kinky hair which is often white, ivory grey in color
  • Cheeks that are pudgy and abnormal eyebrows
  • Premature birth of infants
  • Lower than normal temperature
  • Difficulties in feeding
  • Seizures
  • Irritability
  • Muscle tone lack, floppiness
  • Disability intellectually and delay in development.

Treatment for Menkes Disease

There is no cure for Menkes disease, a slight benefit can be gotten through early treatment with injections from copper supplements which are in form of acetate salt. There are other treatments which are supportive and symptomatic.

Life expectancy of Menkes Disease

In the first decade of life, children’s with Menkes disease die this happens between 3 years of birth. Early treatment of injection with copper in the early months of the disease may bring promising future. The life expectancy of the child or patient is 3 to 13 years of age.

Conclusion

Menkes disease early treatment can prolong the lifespan in a patient. The early symptoms detected before even birth can help in seeking further treatment measures. Prevention is better than cure, taking caution on the cause of Menkes disease, applying preventive measures can be a sure way to disease freedom.

Medically Reviewed By
Dr. Kaushal M. Bhavsar (MBBS, MD)Assistant Professor in Pulmonary Medicine, GMERS Medical College, Ahmedabad

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