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Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Medication

  • Author: Gerard T Berry, MD; Chief Editor: Maria Descartes, MD  more...
 
Updated: Feb 20, 2015
 
 

Medication Summary

Drug therapy currently is not a component of the standard of care for this condition. See Treatment.

 
 
Contributor Information and Disclosures
Author

Gerard T Berry, MD Harvey Levy Chair in Metabolism, Director, Metabolism Program, Division of Genetics, Boston Children's Hospital; Professor of Pediatrics, Harvard Medical School

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

Disclosure: Nothing to disclose.

Coauthor(s)

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

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

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.

Eric T Rush, MD, FAAP, FACMG Clinical Geneticist, Munroe-Meyer Institute for Genetics and Rehabilitation; Assistant Professor of Pediatrics and Internal Medicine, University of Nebraska Medical Center

Eric T Rush, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American College of Physicians, Nebraska Medical Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Alexion Pharmaceuticals<br/>Honoraria for: Alexion Pharmaceuticals and Biomarin Pharmaceuticals.

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

Robert D Steiner, MD Chief Medical Officer, Acer Therapeutics; Clinical Professor, University of Wisconsin School of Medicine and Public Health

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 and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Acer Therapeutics; Retrophin; Raptor Pharma; Veritas Genetics; Censa Pharma<br/>Received income in an amount equal to or greater than $250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma.

References
  1. Berry GT, Segal S and Gitzelmann R. Disorders of Galactose Metabolism. 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. 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. 1970 Jun. 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. 1999 Jan. 80(1):93-6. [Medline].

  8. Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ. Molecular basis for Duarte and Los Angeles variant galactosemia. Am J Hum Genet. 1997 Feb. 60(2):366-72. [Medline]. [Full Text].

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

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

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

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

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

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

  15. Hoffmann B, Wendel U, Schweitzer-Krantz S. Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. J Inherit Metab Dis. 2011 Apr. 34(2):421-7. [Medline].

  16. Timmers I, van den Hurk J, Di Salle F, Rubio-Gozalbo ME, Jansma BM. Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions. J Inherit Metab Dis. 2011 Apr. 34(2):367-76. [Medline]. [Full Text].

  17. ten Hoedt AE, Maurice-Stam H, Boelen CC, Rubio-Gozalbo ME, van Spronsen FJ, Wijburg FA, et al. Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. J Inherit Metab Dis. 2011 Apr. 34(2):391-8. [Medline]. [Full Text].

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

  19. 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. 2000 Dec. 137(6):833-41. [Medline].

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

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

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

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

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

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

  26. 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].

  27. Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J. Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. J Inherit Metab Dis. 2011 Apr. 34(2):399-407. [Medline].

  28. Singh R, Thapa BR, Kaur G, Prasad R. Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population. Biochem Genet. 2012 Dec. 50(11-12):871-80. [Medline].

  29. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, et al. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov. 35(6):1037-49. [Medline].

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

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

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

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

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

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

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

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

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

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

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

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

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

  43. Li Y, Ptolemy AS, Harmonay L, Kellogg M, Berry GT. Quantification of galactose-1-phosphate uridyltransferase enzyme activity by liquid chromatography-tandem mass spectrometry. Clin Chem. 2010 May. 56(5):772-80. [Medline]. [Full Text].

  44. Li Y, Ptolemy AS, Harmonay L, Kellogg M, Berry GT. Ultra fast and sensitive liquid chromatography tandem mass spectrometry based assay for galactose-1-phosphate uridylyltransferase and galactokinase deficiencies. Mol Genet Metab. 2011 Jan. 102(1):33-40. [Medline]. [Full Text].

  45. Berry GT, Elsas LJ. Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. J Inherit Metab Dis. 2011 Apr. 34(2):249-55. [Medline].

  46. Berry GT. Galactosemia: when is it a newborn screening emergency?. Mol Genet Metab. 2012 May. 106(1):7-11. [Medline].

  47. Batey LA, Welt CK, Rohr F, Wessel A, Anastasoaie V, Feldman HA, et al. Skeletal health in adult patients with classic galactosemia. Osteoporos Int. 2013 Feb. 24(2):501-9. [Medline].

  48. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun. 112(2):87-122. [Medline].

  49. Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT. A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Mol Genet Metab. 2014 Jul. 112(3):191-7. [Medline].

  50. Waisbren SE, Potter NL, Gordon CM, et al. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar. 35(2):279-86. [Full Text].

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