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A 23-year-old male asked:

Can mcad deficiency be present in adulthood? can i know clinically if i have this? which are the symptoms and the treatment?

2 doctor answers2 doctors weighed in
Dr. Tania Dempsey
Internal Medicine 26 years experience
Yes: Medium-chain acyl-coa dehydrogenase deficiency can in rare instances go undiagnosed until adulthood. There may be no symptoms until the body is put into a fasting state. Normally, the body would try to break down fat to make sugar to keep the blood sugar stable but with mcad def. Fats cannot be broken down. This can lead to a variety of issues. Treatment is to avoid fasting and carnitine suppl.
Dr. James Shoemaker
General Practice 41 years experience
Most outgrow it: Medium chain acyl-coa dehydrogenase deficiency has been described in adults, but most children outgrow the risk of fatal hypoglycemia by the age of 8 or so. One theory of why this is is that the available pool of coenzyme a is increased as babies grow. Acylcarnitine analysis can detect this condition in adults who may have muscle pain on exertion, heart problems or low blood sugar when fasting.

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Last updated Sep 28, 2016


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