Clinical Utility of Testing

Due to the complex nature of molecular testing for GSD (large genes with numerous mutations), enzyme assays are usually used for the diagnosis of GSD. However, for prenatal diagnosis of GSD I, gene-based mutation testing or linkage analysis is the preferred method,since the enzymes are not present in amniocytes or chorionic villi, requiring a liver biopsy to obtain tissue containing the relevant enzyme. For prenatal diagnosis of GSD II, III and IV, DNA testing can be used to complement and confirm biochemical results. Therapy for GSD I, II, III, and IV includes dietary management, and for GSD II, enzyme replacement is available (for complete review on treatment for GSD, see References 20 and 21).

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