It takes a keen eye: And a high index of suspicion from a general or family practitioner or internist to diagnose these metabolic conditions because the symptoms are non- specific - nausea., fatigue , lethargy , vomiting etc. Then a referral to a medical geneticist and/ or hepatologist is warranted to confirm the diagnosis -achieved through blood work and/or liver biopsy.
Answered 12/10/2013
5.2k views
1-Step Metabolomics: Any physician can order the most broad-spectrum screen for metabolic disorders: "one-step metabolomics". Here is a link to a video demonstration of the technique. http://www.jove.com/video/2014/one-step-metabolomics-carbohydrates-organic-amino-acids-quantified.
Answered 9/25/2016
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