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A member asked:
How to diagnose glycogen disorder in baby?
2 doctors weighed in across 2 answers
Please see below: Gene testing. Liver and muscle biopsy are other options.
Answered 4/9/2014
4.2k views
Glycogen D/O Type I: For Type 1 glycogen storage disease, look for sx's around 3 to 4 months. Blood tests are done to check blood sugar level as well as function of kidneys, liver & skeletal muscles (uric acid, creatinine, cholesterol & triglycerides). Tissue sample from muscle or liver can be tested to glycogen level & enzymes. Genetic testing.
Answered 9/7/2020
46 views
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