Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Follow-up

  • Author: Gerard T Berry, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Dec 6, 2011
 

Further Inpatient Care

  • During the initial hospitalization for a child with symptomatic severe classic galactosemia, the major concerns are sepsis, bleeding, liver dysfunction, and brain swelling. Treat these conditions as they would be treated in patients who do not have galactosemia.
  • Immediate and total removal of galactose from the diet is the only specific treatment for a patient with galactosemia that differs from treatments for patients with sepsis or liver dysfunction from other causes.
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Prognosis

  • If untreated, severe classic galactosemia is a life-threatening disorder. Fortunately, most states and developed countries screen for galactosemia in the newborn period, and affected infants are treated before they become very ill.
  • Infants with galactosemia who are severely ill (eg, those with sepsis, coagulopathy, liver dysfunction) before treatment for galactosemia is initiated may develop permanent liver, brain, and/or eye damage (although cataracts are often completely reversible).
  • Most patients with severe galactosemia who do not receive treatment often do not survive the newborn period.
  • Even with appropriate dietary therapy, most patients have at least 1-2 long-term complications.
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Patient Education

  • Dietary therapy requires both parental and patient education. Involve children in their dietary management as soon as appropriate.
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Contributor Information and Disclosures
Author

Gerard T Berry, MD  Professor of Pediatrics, Children's Hospital Boston

Gerard T Berry, MD is a member of the following medical societies: American College of Medical Genetics, American Diabetes Association, American Society of Human Genetics, Federation of American Societies for Experimental Biology, Pediatric Endocrine Society, Sigma Xi, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

George A Anadiotis, DO  Consulting Staff, Division of Clinical and Biochemical Genetics, Department of Pediatric Rehabilitation and Development, Emmanuel Children's Hospital

George A Anadiotis, DO is a member of the following medical societies: American Medical Association and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert D Steiner, MD  Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Faculty, Program in Molecular and Cellular Biosciences, Oregon Health and Science University School of Medicine; Attending Physician, Doernbecher Children's Hospital; Staff Consultant, Director of Metabolic Bone Disease Clinic, Shriners Hospital Portland

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research

Disclosure: Amicus Honoraria Consulting; Actelion Honoraria Consulting; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Consulting; Genzyme Honoraria Consulting; Shire Honoraria Consulting

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.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

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 and Genetics, Director RSA, 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.

References

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