Adult polyglucosan body disease body disease do not have identified mutations in the "GBE1" gene. In these individuals, the cause of the disease is unknown. Along with evaluation of the symptoms and a neurological examination, a diagnosis can be made based on genetic testing. Whether or not a person is making sufficient amounts of functional glycogen branching enzyme can be determined by taking a skin biopsy and testing for activity of the enzyme. Examination of tissue biopsied from the sural nerve under a microscope can reveal the presence of polyglucosan bodies. There will also be white matter changes visible in a magnetic resonance imaging
Sex differences in humans medicine include sex-specific diseases, which are diseases that occur "only" in people of one sex; and sex-related diseases, which are diseases that are more usual to one sex, or which manifest differently in each sex. For example, certain autoimmune diseases may occur predominantly in one sex, for unknown reasons. 90% of primary biliary cirrhosis cases are women, whereas primary sclerosing cholangitis is more common in men. Gender-based medicine, also called "gender medicine", is the field of medicine that studies the biological and physiological differences between the human sexes and how that affects differences in disease. Traditionally, medical research has mostly