Because Menkes is an X-linked recessive trait, a carrier mother has a 50% chance of having a boy with Menkes and a 50% chance of having a girl who is a carrier. Carriers may show minor symptoms of the disease like hair changes and skin hypopigmentation. Usually carrier symptoms are inconspicuous and do not result in clinical attention. Looser skin and ligaments may accompany joint hypermobility that may require exercise guidance. Occasionally connective tissue symptoms may be more severe and diagnosed as Ehlers-Danlos Syndrome (EDS).
Menkes Carriers
by Nina Horn
Allergic reactions with diarrhoea may be more common and include lower tolerance to old cheese and poorly prepared pickled herrings. Increased histamine levels may potentially add to pregnancy problems and premature delivery. In rare cases, girls who are Menkes carriers display symptoms similar to boys due to a difference in x-inactivation.
How Common is Menkes Disease?
Menkes disease is a rare disorder, but the exact occurrence of Menkes disease is unknown due to the number of undiagnosed patients. Improving detection will give a clearer understanding of the incidence of Menkes’ disease, especially in undetected populations currently too young to be diagnosed. It is suspected that many Menkes babies do not reach full term, and many carriers are unaware that they are carriers of Menkes. Improved detection would help affected individuals make the best decisions for their families.
Menkes Spectrum
Menkes babies with the severe form usually die during the first years of life, but the disease does not present uniformly and a broad disease spectrum has been observed*. In a mouse model (brindled mouse) about 40 different Menkes disease subtypes exist. Patients with milder subtypes can survive into adulthood. Connective tissue problems are the most common symptom. Many patients who exhibit only mild symptoms live long lives and are able to have children of their own. The disease type and severity rarely differs in a family, but better treatment options may change these outcomes.