The diagnosis of GSDs involves a combination of clinical evaluation, biochemical tests, genetic testing, and histological examination:
- Clinical Evaluation: Symptoms such as hypoglycemia, muscle weakness, and hepatomegaly prompt further investigation. - Biochemical Tests: Blood tests may reveal abnormal levels of glucose, lactate, and other metabolites. - Genetic Testing: Identifying mutations in specific genes associated with GSDs can confirm the diagnosis. - Histological Examination: Liver or muscle biopsies are analyzed histologically, using PAS staining to detect glycogen accumulation.
