Starting to look into metabolic / endocrine disorders today.

Primary carnitine deficiency is genetic, I’m wondering if they will run genetic testing for endocrine and metabolic disorders. If it’s not genetic, it’s secondary to another issue.

Carnitine deficiency is a metabolic disorder, like diabetes, except it involves nutrients and energy not getting inside of cells. This causes issues with maintaining and building muscle and maintaining energy.

For some people when it’s been a problem for long enough, it can cause heart failure and sudden death. many people with carnitine transport issues also have hypoglycemia.

I know I have issues with carnitine transport but cause is unidentified.

I have issues with other hormones and many areas associated with endocrine system glands. I’m on permanent steroids and other hormones to help manage and limit awful experiences.

I’ve been told endocrinologist can help figure out whats wrong instead of just treating symptoms

So far have had gene tests done for motion disorders and a pharmacogenomic one for mental health meds. Both of them came back showing several specific issues (the med one also showed me some really helpful things about my body).

Both tests documented genes not in their database so I got some weird genes, but we knew that already.


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