The genetic condition known as Menkes disease was named by Menkes et al in 1962 after observations were made of five children who were all born without incident, but gained little weight, had floppy muscle tone and course, brittle hair.
What is Menkes Disease?
Copper is an essential metal which is required by several enzymes. Too little or too much can lead to problems. Menkes disease is a rare genetic disorder which mainly affects males as it is an X-linked recessive disorder.
Several body organs such as the liver, brain and blood plasma may be deficient in copper content while others such as the spleen and skeletal muscles might have an excess. Both situations are harmful.
Causes of Menkes Disorder
At a deeper level, this disorder has its origin in a genetic mutation of the gene which controls the metabolism of copper. This results in the disruption or impairment of the transport of dietary copper from the intestinal cells, thus leading to a shortage in some parts of the body and accumulation and excess in others.
The gene responsible is found on the long arm of the X chromosome at Xq13.3, and the gene product (ATP7A) is a 1500–amino acid P-type adenosine triphosphatase.
Symptoms and Cure
Menkes disease is an extremely rare condition, affecting approximately 1 in every 298,000 births.
As far as the symptoms are concerned they may vary slightly depending on the severity of the disorder, but mainly the following symptoms are observed.
- Hair could be sparse, coarse and twisted.
- The baby may not be able to show normal levels of strength, for example an inability to hold a small toy.
- The face and muscles show abnormal weakness and sagginess.
- There might be occasional seizures.
Currently, the prognosis is poor for individuals with Menkes disease, and many children die before they reach the age of 10. Research has shown that early diagnosis and intervention (in certain cases injecting intramuscular copper in the patients) can improve conditions for the patient. And though there is not an effective therapy yet, there are several laboratories and research teams looking for a gene-based cure or drug treatment to prolong life.