My baby is 10 months. She is having respiratory issues because of the muscles weakness . I would like to know if there is any treatment for it. I need it ASAP
Muscle weakness is very common in CACT deficiency and can lead to respiratory ploblems. You should be working very closely with your metabolic team to address the problem, which can involve additional support for breathing. If your child is not on triheptanoin (Dojolvi), your physicians can consider using that medication. It can improve muscle function in CACT deficiency. I hope this helps. Dr. Vockley.
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