Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Glycogen Storage Disease Type IV

System/ConcernEvaluationComment
Hepatic Liver function studies incl albumin, transaminases, & coagulation profile
Cardiac Referral to cardiologist for baseline echocardiogram & electrocardiogramTo assess for cardiomyopathy
Development Neurodevelopmental evaluation
Neurologic Referral to neurologist for comprehensive examination & baseline assessment of skeletal muscle involvementTo monitor disease progression
Other Consultation w/clinical geneticist &/or genetic counselor

From: Glycogen Storage Disease Type IV

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