Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

The consequences of the various genetically determined defects of carbohydrate metabolism differ markedly. For example, while glycogen storage disease type IX (GSD IX) is a “nuisance” not requiring treatment, GSD IIa is fatal and no treatment is available. The relative importance of prenatal diagnosis is noncontroversial for conditions at opposite ends of the clinical spectrum, and pregnancies at risk can be managed accordingly with the consensus of parents, health personnel, and public agencies. It is in situations such as GSD I, with patient survival but with unpredictable problems, in which judgments must be made based on individual circumstances of the patient, family, and community.