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What is Menkes disease?

Menkes Disease (OMIM 309400) is rare genetic disorder caused by copper deficiency resulting from mutations in a gene which lies on the X chromosome and encodes a copper transporter. The estimated incidence in the general population is 1 in 298,000. The disorder is also known as "kinky hair" disease, due to the unusual colour and texture of the hair affected individuals. Menkes disease is characterised by growth failure and extensive neuro-degeneration and prognosis for individuals is poor. The disorder follows a progressively degenerative path involving several organs of the body, but especially the brain. Affected infants may be born prematurely and appear normal at birth, but at the age of 2 to 3 months will suffer severe developmental delay and a loss of early developmental skills. At present, the most promising treatment is very early copper injections.

Is Menkes disease genetic?

Menkes disease is a single-gene (Mendelian) disorder and is caused by mutations in the ATP7A gene, which is found on the X chromosome. Menkes disease is predominantly an inherited disorder which shows X-linked recessive inheritance. This means it typically occurs in males, however the few females displaying signs of Menkes disease show far less severe symptoms. It also means only female carriers of defective ATP7A (and not males) can pass the disorder on to their sons. About one-third of cases of Menkes result from new mutations in the gene and occur in people with no history of the disorder in their family. 

What our are our goals?

There have been many advances in understanding Menkes disease since the disorder was first identified.  Professor Monaco's Research Group has been actively researching Menkes disease ever since the opening of the Wellcome Trust Centre for Human Genetics, and in 1993 was one of the research groups to clone the Menkes gene. Our research on Menkes disease is currently focused on developing a better understanding of the function of the protein encoded by the Menkes gene ATP7A.

Wilson Disease

Whilst Menkes disease is caused by a copper deficiency, another rare genetic disorder, Wilson Disease (OMIM 277900) is caused by an excess (accumulation) of copper. This disease is also caused by mutations in an homologous copper transporter encoded by the gene ATP7B which resides on Chromosome13. Our research has recently led us to investigate the functionality of the protein encoded by ATP7B.


Any enquiries contact Dr Zoe Holloway