Rare inherited diseases of copper metabolism

This year, Randox Reagents are supporting Rare Disease Day on 28th February.  Randox offer a test that aids in the diagnosis and monitoring of Wilson Disease and Menkes Disease which are rare inherited disorders of copper metabolism.

 

What is a rare disease?

According to the European Union, a rare disease is defined as a disease that affects less than 5 in 10,000 of the general population.  7% of the population will be affected by a rare disease at some point in their life.  This equates to 30 million people in Europe.

 

Wilson Disease

Wilson Disease is a rare inherited autosomal recessive disorder of copper metabolism, characterised by excessive deposition of copper in various bodily tissues, particularly the liver, brain, and corneas of the eyes.  This is due to mutations of the ATP7B gene which is responsible for encoding specific proteins that are responsible for the transportation of copper from the liver around the body, which is prohibited due to the mutations.  If left untreated, Wilson Disease can cause hepatic disease, central nervous system dysfunction, or death.  Approximately 1 in 300,000 people are affected by Wilson Disease worldwide (WDA, 2018).  The first sign of Wilson Disease is liver dysfunction in more than half of patients, beginning at six years of age, however, it usually presents clinically in teenage years or early twenties manifesting as acute hepatitis.  Some individuals with Wilson Disease have been thought to have infectious hepatitis or infectious mononucleosis and so it is vital that those with unexplained, abnormal liver tests are tested for Wilson Disease.

 

Menkes Disease

Menkes Disease is more likely to affect premature babies and is a rare inherited x-link recessive disorder of copper metabolism, characterised by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system.  This is due to mutations of the ATP7A gene which is responsible for the absorption of copper from food in the small intestines and supplying copper to certain enzymes that are critical for the structure of bone, skin, hair, blood vessels, and the nervous system.  Approximately 1 in 100,000 people are affected by Menkes disease worldwide (USA National Library of Medicine, 2018).  The first sign of Menkes Disease develops at 2-3 months of age and includes curly, sparse, coarse, dull, and discoloured haired.

 

As there are no cures for Wilson Disease or Menkes Disease, treatment aids to reduce/replace copper within the body.  The Randox Copper assay can comfortably detect copper levels outside of the healthy range to aid in the diagnosis and monitoring of treatment of Wilson Disease and Menkes Disease.

 

Randox Copper Assay

The Randox Copper assay is used to measure the amount of copper in the blood; to help with the diagnosis and monitoring of rare inherited diseases related to copper toxicity (Wilson Disease) and copper deficiency (Menkes Disease).  Copper deficiency is less likely because a normal diet contains plenty of copper including organ meats, beans, and wholegrains, however, copper deficiency is more likely to occur in those who are malnourished, more likely children.

 

For more information visit: https://dev.randox.com/copper

 

To request an application for your specific analyser, contact reagents@randox.com


Clinical Laboratory Survey