DWQA QuestionsCategory: QuestionsSenior MCADD Patient
Cathy Berner asked 5 years ago
I have been diagnosed with MCADD at the age of 62 years. I have suspected since I was a young woman that something was wrong with my metabolism, given general and sudden states of severe exhaustion. There is little information regarding symptoms in a senior MCADD patient. I want to know if I am more at risk from MCADD as I age due to other stresses such as my Sjögren’s syndrome and osteoarthritis. My symptoms include increasing lethargy, muscle aches, poor memory and often a heavy chest which feels like breathing is affected. However heart and lung function studies are normal. Thank you.

1 Answers
INFORM Physician answered 5 years ago
You are asking a question with which many metabolic physicians have been trying to come to grips as we identify older patients with previously unidentified FAODs. MCAD is a good example of this situation, as individuals born before newborn screening was started (for the most part 10-20 years ago) have survived childhood, potentially with some symptoms, and never been diagnosed. The simple answer is that you most certainly face the same risks due to your MCAD deficiency as any other patient. Specifically, with physiologic stress (exercise or illness) or prolonged fasting, you may become symptomatic and be at risk for serious symptoms. In these settings you should always be sure you keep your fluid and calorie intake up, and see your metabolic physician if you can’t. Surgical procedures can be especially dangerous as anesthesiologists and surgeons typically keep people without food on IVs not containing glucose for long periods of time, leading to significant risks for metabolic symptoms. We don’t have evidence that MCAD deficiency makes any other disease worse, but it hasn’t been studied in any rigorous way. Your muscular symptoms and feeling of fatigue could certainly be related to your MCAD deficiency and are worth being evaluated by a metabolic physician. In the long run, I hope you’ll look for opportunities to enroll in research on the natural history of MCAD deficiency as we seek to learn more about the full spectrum of the disease. You can watch the INFORM Families pages for information on new and active research projects of interest to you.