Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Treatment & Management

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

Medical Care

  • The mainstay of medical care in the postnatal period is to immediately discontinue ingestion of lactose-containing formula.
  • This ameliorates the acute toxicity associated with the neonatal period but does not prevent all long-term complications.
  • Clotting abnormalities may be cryptic and require fresh frozen plasma treatments.[10]
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Consultations

  • Refer children to appropriate language and speech centers to optimize treatment for learning problems.
  • Refer women to an endocrinologist or reproductive gynecologist for appropriate treatment for ovarian failure.
  • No standardized treatment for short stature has been established, and the etiology is unknown in many instances.
  • Because dietary therapy is necessary, refer patients to a dietitian who has experience with metabolic disorders.
  • Consultation with a biochemical geneticist (ie, metabolic disease specialist) is advisable for diagnostic laboratory evaluation, monitoring, and clinical care for patients with galactosemia.
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Diet

  • Prescribe a galactose-restricted diet for infants who are galactosemic. Older patients may tolerate lactose better than infants. The restriction of milk intake throughout life is controversial. However, most metabolic specialists support a life-long diet therapy.[7]
  • Totally eliminating galactose is difficult because it is present in a wide variety of foods (eg, infant foods, fruits, vegetables), especially in the macromolecular form.
  • Dietary restrictions during pregnancy, as well as prospectively during postnatal life, may have no effect on long-term complications of an affected fetus.
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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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