DWQA QuestionsCategory: QuestionsI have severe symptoms but I am carrier of MCADD, can you help?
Lyazzat Davletova asked 2 months ago
Dear Doctors,
I am a MCADD carrier and I was told I cannot be diagnosed as patient with MCADD. But I have severe symptoms of hypoglycemia at night and pounding heart that would not stop even after eating. I am afraid that I will not be able to get help fast enough as I am in waiting line to local genetic doctor that may take too long time. I have chest pain and I am very worried about the outcome. I am not sure that doctor can help me too because it may not easy to help adult who have many health challenges including autoimmune, glucose intolerance and food intolerances. I know you are the only doctors that research a lot about MCADD so I hope you may help me. I would participate in your research but I cannot tolerate fasting.
Is there are other way to reduce symptoms? Carnitine and Acetyl-carnitine don’t help me and they are high in my last test this year.  I was told that intake of antibiotic drug Cipro in the past may caused increasing of symptoms of hypoglycemia. I did take it about 10 years ago and my symptoms started at this time though I had high fatty acids before that in my AOT test in 2011. I am not able to tolerate carbohydrates  so I have to eat protein at night every 2 hours. But I have problem with protein folding that increase phenylalanine  (turning leucine to Phe). So I guess I should not eat much protein.  Please, help me somehow because I don’t know where else to look!
Thank you,
Lyazzat Davletova

1 Answers
Keith McIntire answered 2 months ago
Lyazzat,
Carriers of MCAD deficiency are indeed asymptomatic. If your MCAD variant allele was identified because of your symptoms, your physicians should look for another non-coding variant. They aren’t identified by most clinical testing and if present would mean that you are indeed affected and not just a carrier. Alternatively, enzyme activity can be testing in white blood cells for skin cells. However, you should know that most adults with MCAD deficiency are able to fast overnight without any difficulty so I suspect your symptoms are due to something else. There are many other caused of hypoglycemia besides MCAD and you should have a thorough evaluation by a metabolic specialist who can do additional evaluations. I hope this helps. Dr. Vockley