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

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

Author: Gerard T Berry, MD, Professor of Pediatrics, Children's Hospital of Boston
Coauthor(s): George A Anadiotis, DO, Consulting Staff, Division of Clinical and Biochemical Genetics, Department of Pediatric Rehabilitation and Development, Emmanuel Children's Hospital
Contributor Information and Disclosures

Updated: Oct 10, 2008

Follow-up

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.

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.

Patient Education

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

Miscellaneous

Medicolegal Pitfalls

  • Failure to respond appropriately to a positive (ie, abnormal) neonatal screening test result
  • Failure to restrict galactose in the diet of an affected infant
  • Failure to follow up a positive (ie, abnormal) screening test result with a quantitative galactose-1-phosphate uridyltransferase (GALT) analysis
  • Failure to test for or consider galactosemia in the clinical setting due to the mistaken assumption that all children are screened for galactosemia or that the screening test is 100% accurate and foolproof

Special Concerns

  • Although the initial toxicity of infancy is resolved by a galactose-restricted diet, long-term complications require regular follow-up with a physician.
 


More on Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)

Overview: Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
Differential Diagnoses & Workup: Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
Treatment & Medication: Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
Follow-up: Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
References
[ CLOSE WINDOW ]

References

  1. Berry GT, Segal S and Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray M, van den Berghe G, Walter JH. Inborn Metabolic Diseases – Diagnosis and Treatment. 4. New York, NY: Springer-Verlag, Inc; 2006.

  2. Segal S. Galactosemia unsolved. Eur J Pediatr. 1995;154(7 Suppl 2):S97-102. [Medline].

  3. Fridovich-Keil J, Walter. Galactosemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill Medical Publishing Division; 2008:72.

  4. Mason HH, Turner ME. Chronic galactosemia: report of case with studies on carbohydrates. Am J Dis Child. 1935;50:359-74.

  5. Komrower GM, Lee DH. Long-term follow-up of galactosaemia. Arch Dis Child. Jun 1970;45(241):367-73. [Medline].

  6. Waggoner DD, Buist NR, Donnell GN. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis. 1990;13(6):802-18. [Medline].

  7. Walter JH, Collins JE, Leonard JV. Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group. Arch Dis Child. Jan 1999;80(1):93-6. [Medline].

  8. Garden AS, Davidson DC. Recommendations for the management of galactosaemia. Arch Dis Child. Mar 2000;82(3):266. [Medline].

  9. Antshel KM, Epstein IO, Waisbren SE. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology. Oct 2004;18(4):658-64. [Medline].

  10. Levy HL, Brown AE, Williams SE, de Juan E Jr. Vitreous hemorrhage as an ophthalmic complication of galactosemia. J Pediatr. Dec 1996;129(6):922-5. [Medline].

  11. Waisbren SE, Norman TR, Schnell RR, Levy HL. Speech and language deficits in early-treated children with galactosemia. J Pediatr. Jan 1983;102(1):75-7. [Medline].

  12. Nelson CD, Waggoner DD, Donnell GN, et al. Verbal dyspraxia in treated galactosemia. Pediatrics. Aug 1991;88(2):346-50. [Medline].

  13. Potter NL, Lazarus JA, Johnson JM, Steiner RD, Shriberg LD. Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis. Aug 2008;31(4):524-32. [Medline].

  14. Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med. Apr 23 1981;304(17):994-8. [Medline].

  15. Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJ 2nd. Risk factors for premature ovarian failure in females with galactosemia. J Pediatr. Dec 2000;137(6):833-41. [Medline].

  16. Forges T, Monnier-Barbarino P. [Premature ovarian failure in galactosaemia: pathophysiology and clinical management]. Pathol Biol (Paris). Feb 2003;51(1):47-56. [Medline].

  17. Gubbels CS, Land JA, Rubio-Gozalbo ME. Fertility and impact of pregnancies on the mother and child in classic galactosemia. Obstet Gynecol Surv. May 2008;63(5):334-43. [Medline].

  18. Schweitzer S, Shin Y, Jakobs C, Brodehl J. Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr. Jan 1993;152(1):36-43. [Medline].

  19. Schadewaldt P, Lilburn M, Wendel U, Lee P. Unexpected outcome in untreated galactosaemia. Molecular Genetics and Metabolism. 2004;81:255-57.

  20. Panis B, Bakker JA, Sels JP, Spaapen LJ, van Loon LJ, Rubio-Gozalbo ME. Untreated classical galactosemia patient with mild phenotype. Mol Genet Metab. Nov 2006;89(3):277-9. [Medline].

  21. Elsas L, Fridovich-Keil J, Leslie N. Galactosemia: a molecular approach to the enigma. In: International Pediatrics. 1993:101-9.

  22. Elsas LJ 2nd, Langley S, Paulk EM, et al. A molecular approach to galactosemia. Eur J Pediatr. 1995;154(7 Suppl 2):S21-7. [Medline].

  23. Arn PH. Galactosemia. Curr Treat Options Neurol. Jul 2003;5(4):343-345. [Medline].

  24. Berry GT. Galactosemia and amenorrhea in the adolescent. Ann N Y Acad Sci. 2008;1135:112-7. [Medline].

  25. Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis. Aug 2006;29(4):516-25. [Medline].

  26. Forges T, Monnier-Barbarino P, Leheup B, Jouvet P. Pathophysiology of impaired ovarian function in galactosaemia. Hum Reprod Update. Sep-Oct 2006;12(5):573-84. [Medline].

  27. Gibson JB. Gonadal function in galactosemics and in galactose-intoxicated animals. Eur J Pediatr. 1995;154(7 Suppl 2):S14-20. [Medline].

  28. Holton JB, Leonard JV. Clouds still gathering over galactosaemia. Lancet. Nov 5 1994;344(8932):1242-3. [Medline].

  29. Komrower GM. Clouds over galactosemia. Lancet. Jan 22 1983;1(8317):190. [Medline].

  30. Komrower GM. Galactosaemia - thirty years on the experience of a generation. J Inherit Metab Dis. 1982;5(Suppl 2):96-104.

  31. Leslie ND. Insights into the pathogenesis of galactosemia. Annu Rev Nutr. 2003;23:59-80. [Medline].

  32. Ridel KR, Leslie ND, Gilbert DL. An updated review of the long-term neurological effects of galactosemia. Pediatr Neurol. Sep 2005;33(3):153-61. [Medline].

  33. Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur J Pediatr. Dec 2003;162 Suppl 1:S50-3. [Medline].

  34. Segal S. Komrower Lecture. Galactosaemia today: the enigma and the challenge. J Inherit Metab Dis. Aug 1998;21(5):455-71. [Medline].

  35. Segal S, Berry G. Disorders of galactose metabolism. In: The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill; 1995:967-1000.

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

galactose-1-phosphate uridyltransferase deficiency, GALT, hypergalactosemia, classic galactosemia, GALT deficiency, Escherichia coli, E coli, sepsis, Duarte variant, liver dysfunction, hepatomegaly, cataract, hypotonia, ascites, learning disorder, delayed language acquisition, language deficit, speech deficit, hypergonadotropic hypogonadism, primary ovarian insufficiency

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Gerard T Berry, MD, Professor of Pediatrics, Children's Hospital of 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, Lawson-Wilkins 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.

Medical Editor

Robert D Steiner, MD, Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Deputy Director, Oregon Clinical and Translational Research Institute
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: Genzyme Honoraria Speaking and teaching; Genzyme Grant/research funds Other; Shire Honoraria Speaking and teaching; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Speaking and teaching; Biomarin Consulting fee Consulting

Pharmacy Editor

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

Managing Editor

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.

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.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.