Re: Metabolic test results back; seeking interpretation of results. #file-notice
Yes, PSSM is a biopsy diagnosis. The differentiation between 1 and 2 is the presence of amylase resistant PAS positive material (glycogen). SomePSSM1 cases are caused by the GYS1 mutation. Some PSSM2 are characterized by abnormal deposits of the protein desmin which is found with special stains.
The biopsy can also tell you if there is a problem which is not PSSM.
Eleanor in PA