Use of cookies
This website stores cookies on your computer. These cookies are used to collect information about how you interact with our website and allow us to remember you. We use this information in order to improve and customize your browsing experience and for analytics and metrics about our visitors both on this website and other media. To find out more about the cookies we use, as well as to change their configuration, see our Cookie Policy.

Acyl-CoA dehydrogenase deficiency, medium-chain (ACADM)

cabecera inglés web

What is Acyl-CoA dehydrogenase deficiency, medium-chain?

Acyl-CoA dehydrogenase deficiency, medium-chain is a severe inherited disease mainly characterized by a rapidly progressive metabolic crisis, often presenting as extremely low levels of ketones and low blood sugar, lethargy, vomiting, seizures and coma. The age of onset is neonatal or infantile.

Acyl-CoA dehydrogenase deficiency follows an autosomal recessive pattern of inheritance. A couple is at risk of having affected offspring only when both members are carriers of the disease. When both members are carriers, the risk of having an affected child is 1 out of every 4 children.


Infografico Carriers


What is the next step if I’m a carrier of Acyl-CoA dehydrogenase deficiency?

If you are found to be a carrier of Acyl-CoA dehydrogenase deficiency it is important that your partner be tested for the same genetic disorder.


What if my partner is not a carrier?

If your partner’s test for Acyl-CoA dehydrogenase deficiency is negative, the chance to have an affected child is low. However there is currently no test able to detect all existing mutations, so there is always a residual risk that the person who has done the test is a carrier of other less frequent mutations.


What if both me and my partner are carriers of Acyl-CoA dehydrogenase deficiency?

When both parents are carriers of Acyl-CoA dehydrogenase deficiency, the probability of having a child with this disease is 25%.

We recommend that you discuss your results with your doctor or genetic counselor in order to know more about reproductive options.


©2021 | All rights reserved. Legal note | Privacy policy | Cookies policy