eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Fructose 1,6-Diphosphatase Deficiency: Treatment & Medication

Author: Robert J Ferry Jr, MD, Chief, Division of Pediatric Endocrinology and Diabetes, Le Bonheur Children's Medical Center, University of Tennessee Health Science Center at Memphis and St Jude Children's Research Hospital; Lieutenant Colonel (Medical Corps), 162nd Area Support Medical Company, Army National Guard
Contributor Information and Disclosures

Updated: Jul 1, 2008

Treatment

Medical Care

  • Complete avoidance of fructose, its cognate sugars (eg, sorbitol) and prolonged fasting prevents hypoglycemia and lactic acidosis. Nevertheless, ingestion of small amounts of fructose and related sugars may be tolerated in most patients with fructose 1,6-diphosphatase (FDPase) deficiency. No other specific medical therapy is required.
  • Patients may only exhibit hepatomegaly during the metabolic crisis, which resolves promptly with administration of dextrose.
  • Parenteral administration of fructose or sorbitol to a patient with FDPase deficiency can be fatal.
  • Sorbitol is a constituent of many basic foodstuffs and some sugarless chewing gums. The oral bioavailability of sorbitol from routine gum use is usually clinically insignificant. However, use and susceptibility to exposure widely vary; thus, sorbitol should be avoided by patients with FDPase deficiency whenever possible.

Consultations

  • Consultation with a pediatric endocrinologist or metabolism specialist is recommended.

Diet

  • Avoidance of fructose and cognate sugars is sufficient to prevent hypoglycemia and lactic acidosis.

Medication

Drug therapy currently is not a component of the standard care for this disease.

More on Fructose 1,6-Diphosphatase Deficiency

Overview: Fructose 1,6-Diphosphatase Deficiency
Differential Diagnoses & Workup: Fructose 1,6-Diphosphatase Deficiency
Treatment & Medication: Fructose 1,6-Diphosphatase Deficiency
Follow-up: Fructose 1,6-Diphosphatase Deficiency
References
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References

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  28. van Poelje PD, Potter SC, Chandramouli VC, et al. Inhibition of fructose 1,6-bisphosphatase reduces excessive endogenous glucose production and attenuates hyperglycemia in zucker diabetic Fatty rats. Diabetes. 2006;55:1747-1754. [Medline].

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Further Reading

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Keywords

fructose 1,6-diphosphatase deficiency, FDPase, fructose 1,6-bisphosphatase deficiency, Baker's disease, Baker disease, Baker-Winegrad disease, gluconeogenesis, glycogenolysis, lipolysis, glucose homeostasis, FDPase, hypoglycemia, acidosis, hyperglycemia, type 2 diabetes, lactic acidosis, glyceroluria, metabolic acidosis

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Contributor Information and Disclosures

Author

Robert J Ferry Jr, MD, Chief, Division of Pediatric Endocrinology and Diabetes, Le Bonheur Children's Medical Center, University of Tennessee Health Science Center at Memphis and St Jude Children's Research Hospital; Lieutenant Colonel (Medical Corps), 162nd Area Support Medical Company, Army National Guard
Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society
Disclosure: Nutropin Speakers Bureau Honoraria Speaking and teaching

Medical Editor

Michael Fasullo, PhD, Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College
Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

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