Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

  • George Hug


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.


Prenatal Diagnosis Lactic Acidosis Glycogen Storage Disease Pyruvate Carboxylase Glycogen Storage Disease Type 
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Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • George Hug
    • 1
    • 2
  1. 1.Divisions of Enzymology and Clinical Research CenterChildren’s Hospital Medical CenterCincinnatiUSA
  2. 2.Department of PediatricsUniversity of Cincinnati College of MedicineCincinnatiUSA

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