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

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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.

 

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