Further Inpatient Care

Challenge with fructose or a fasting study should be performed only under the close supervision of a pediatric endocrinologist or metabolic specialist in an inpatient setting.

Several Asian countries use glycerol solution containing 5% fructose to manage cerebral edema. Such solutions should not be administered to infants and children because most patients with fructose-1,6-diphosphatase (FDPase) deficiency are undiagnosed. These agents can be fatal.

Deterrence/Prevention

Avoidance of food that contains fructose prevents the metabolic crisis that results from this disorder.

Complications

Fatal hepatic or renal injury has been reported from the metabolic crisis associated with FDPase deficiency.

Prognosis

With prompt diagnosis of this disorder, the prognosis is excellent.

Several successful pregnancies in affected mothers have been reported.^[12]

Patient Education

Parents and patients should be counseled by a dietitian regarding the fructose and sorbitol content of various foods.

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Author

Sunil Kumar Sinha, MD Clinical Assistant Professor, Division of Pediatric Endocrinology, University of Arizona College of Medicine

Sunil Kumar Sinha, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

Additional Contributors

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, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

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, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Acknowledgements

Robert J Ferry Jr, MD Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

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, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other

Sections Fructose 1,6-Diphosphatase Deficiency
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Treatment
Medication
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References

Fructose 1,6-Diphosphatase Deficiency Follow-up

Further Inpatient Care

Deterrence/Prevention

Complications

Prognosis

Patient Education

References

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