3min chapter

Mastering Nutrition cover image

When to Consider Inborn Errors of Metabolism

Mastering Nutrition

CHAPTER

How to Find a Clinical Geneticist for a Suspected Disorder

If you suspect that you are a loved one, have an inborn error of metabolism, you can seek out a local clinical geneticist. I would look for someone who's profile shows that they're actively publishing in their field. It's extremely common for people within born errors of metabolism to be turned away with an I can't help you when using this approach because that patient does not fit a cookie cutter set of pathlimnemonic diagnostic criteria.

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