DWQA QuestionsCategory: QuestionsLosing weight with CPT2 deficiency, what about losing weight while sleeping?
Axel asked 1 month ago
In July 2023 I was diagnosed with CPT2 deficiency both with genetic study and with blood analysis (ck elevated…). In December 2022 I also had a tachycardia (wide qrs),
that I could record with an Apple Watch, (they also did an EP study, but they couldn’t detect it).  Before being diagnosed I found that a way for me to lose weight was
to do fasting from 5-6pm to 12pm. But this could’ve been hurting my body due my condition.

On 2019 my LVEF was 55 and in 2023 was 46 (both measured with MRI). My doctors have now told me to avoid fasting, and see in some months if my LVEF has improved,
they said there was a margin of improvement. But since I’m doing what they said and I’m eating more times per day, I’ve gained a little bit of weight again as it’s so difficult.
to control the calories intake and caloric need at every time. I’m also taking MCT oil (Nutricia) in the past 1 month and trying to avoid LCT.

Is the amount of enzyme I have enough during times where I’m relaxing and not doing anything like sleeping? Or if I run out of carbs/glycogen my body starts getting hurt
no matter I’m active or not? Could a normal “fasting” of just 8 hours (during sleep) be enough?

I’ll also add that except when I was hospitalized in intensive care years ago due to an infection that spread everywhere, I never had dark urine (in the hospital I had severe rhabdomyolysis)
My symptoms are extreme muscle pain (every muscle hurts like needles), when I haven’t eaten for some time, and I’ve ran out of glycogen. But urine is always clear/yellow,
sometimes darker sometimes lighter.

Thank you so much!
Axel

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1 Answers
Keith McIntire answered 2 weeks ago

Axel,

These are very complicated questions and best answered by a full evaluation by a metabolic physician.

While your therapy needs to be tailored to you, in general, severity of your clinical symptoms will be related to the mutations in your CPT2 gene and residual enzyme activity.

Supplementation with MCT oil typically is not as effective as treatment with triheptanoin (Dojolvi). To control weight gain or promote weight loss, your diet should be managed

by a metabolic dietitian. Fasting for weight loss is definitely not a good idea. Slow, steady weight loss can be achieved by reduction of calories by ~5% with increased aerobic activity

to give no more that 1-2 pound loss per month.

I hope this helps. Dr. Vockley