Menkes Disease

What is Menkes Disease?

Menkes syndrome is a genetic disorder that affects how well the body absorbs copper.

It occurs in 1 in 100,000 live births, with the majority of individuals with the syndrome being born prematurely.

Due to the way in which it is inherited it occurs mainly in males.

What gene changes cause Menkes Disease?

Mutations in the ATP7A gene cause the syndrome. As an X-linked recessive disorder it is inherited in the majority of cases and presents mainly in males. Some cases are caused by new mutations.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Menkes Disease?

In infants the main and most severe symptoms are a failure to thrive and jaundice. Most individuals have unstable, low body temperatures.

Typical physical characteristics of the syndrome include very little, kinky hair as well as dry skin. Low muscle tone is another common symptom.

Health conditions associated with the syndrome include the deterioration of the nervous system, severe growth delay, brain and cognitive abnormalities as well as blood clots and osteoporosis.

How does someone get tested for Menkes Disease?

The initial testing for Menkes syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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