Genetics of Glycogen-Storage Disease Type I Differential Diagnoses

Differential Diagnoses

• Biotinidase Deficiency
• Constitutional Growth Delay
• Disorders of Bone Mineralization
• Epistaxis
• Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
• Genetics of Glycogen-Storage Disease Type II (Pompe Disease)
• Genetics of Glycogen-Storage Disease Type III
• Genetics of Glycogen-Storage Disease Type IV
• Genetics of Glycogen-Storage Disease Type V
• Genetics of Glycogen-Storage Disease Type VI
• Growth Failure
• Hepatoblastoma Imaging
• Hepatocellular Carcinoma Imaging
• Pediatric Crohn Disease
• Pediatric Growth Hormone Deficiency
• Pediatric Liver Tumors

Workup

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, Southern Society for Pediatric Research

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Edward Kaye, MD Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, Society for Inherited Metabolic Disorders, American Society of Gene and Cell Therapy, American Society of Human Genetics, Child Neurology Society

Disclosure: Received salary from Genzyme Corporation for management position.

References

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Microsome is shown in relation to the substrate, glucose-6-phosphate, which has been released from cytosolic glycogen. This substrate is transferred across the microsomal membrane by the protein translocase, where by glucose-6-phosphatase acts on it to release free glucose and inorganic phosphate. Patients with glycogen-storage disease type Ia are genetically deficient in glucose-6-phosphate activity, while those affected with glycogen-storage disease type Ib lack translocase.