Skip to main content

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

Notes

  1. 1.

    Intake is often low due to lack of dairy products in diet.

  2. 2.

    These metabolites accumulate but concentrations are not necessarily related to patient outcome.

References

  1. Acosta PB. Nutrition management of patients with inherited disorders of galactose metabolism. In: Acosta PB, editor. Nutrition management of patients with inherited metabolic disorders. Sudbury, Massachusetts: Jones and Bartlett Publishers, LLC; 2010. p. 476.

    Google Scholar 

  2. Calderon FR, et al. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum Mutat. 2007;28(10):939–43.

    Article  CAS  PubMed  Google Scholar 

  3. Bosch AM, et al. Identification of novel mutations in classical galactosemia. Hum Mutat. 2005;25(5):502.

    Article  PubMed  Google Scholar 

  4. Tyfield L, et al. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat. 1999;13(6):417–30.

    Article  CAS  PubMed  Google Scholar 

  5. Shils ME, Shike M. Modern nutrition in health and disease. 10th ed. Philadelphia: Lippincott Williams & Wilkins; 2006. xxv, 2069 p.

    Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  7. Coss KP, et al. N-glycan abnormalities in children with galactosemia. J Proteome Res. 2014;13(2):385–94.

    Google Scholar 

  8. Gross KC, Acosta PB. Fruits and vegetables are a source of galactose: Implications in planning the diets of patients with galactosemia. J Inher Metab Dis. 1991;14:253–8.

    Google Scholar 

  9. Zlatunich CO, Packman S. Galactosaemia: early treatment with an elemental formula. J Inherit Metab Dis. 2005;28(2):163–8.

    Article  CAS  PubMed  Google Scholar 

  10. Vandenplas Y, et al. Soy infant formula: is it that bad? Acta Paediatr. 2011;100(2):162–6.

    Article  PubMed  Google Scholar 

  11. Agostoni C, et al. Soy protein infant formulae and follow-on formulae: a commentary by the ESPGHAN Committee on Nutrition. J Pediatr Gastroenterol Nutr. 2006;42(4):352–61.

    Article  CAS  PubMed  Google Scholar 

  12. Ficicioglu C, et al. Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia. Eur J Pediatr. 2008;167(5):595–6.

    Article  PubMed  Google Scholar 

  13. Turck D. Soy protein for infant feeding: what do we know? Curr Opin Clin Nutr Metab Care. 2007;10(3):360–5.

    Article  CAS  PubMed  Google Scholar 

  14. WHO Technical Report Series: evaluation of certain veterinary drug residues in foods. World Health Organization, 1999. http://www.who.int/foodsafety/chem/jecfa/publications/reports/en/index.html (Accessed June 2014).

  15. Palmieri M, et al. Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Metabolism. 1999;48(10):1294–302.

    Article  CAS  PubMed  Google Scholar 

  16. Bhatia J, Greer F, American Academy of Pediatrics Committee on Nutrition. Use of soy protein-based formulas in infant feeding. Pediatrics. 2008;121(5):1062–8.

    Article  PubMed  Google Scholar 

  17. Mendez MA, Anthony MS, Arab L. Soy-based formulae and infant growth and development: a review. J Nutr. 2002;132(8):2127–30.

    CAS  PubMed  Google Scholar 

  18. Portnoi PA, MacDonald A. Determination of the lactose and galactose content of cheese for use in the galactosaemia diet. J Hum Nutr Diet. 2009;22(5):400–8.

    Article  CAS  PubMed  Google Scholar 

  19. Van Calcar SC, et al. Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia. J Agric Food Chem. 2014;62(6):1397–402.

    Article  PubMed  Google Scholar 

  20. Southward CR. Casein products: chemical processes in New Zealand. New Zealand: New Zealand Dairy Research Institute; 1998. p. 1–13.

    Google Scholar 

  21. Wright EM, Martín MG, Turk E. Intestinal absorption in health and disease – sugars. Best Pract Res Clin Gastroenterol. 2003;17(6):943–56.

    Article  CAS  PubMed  Google Scholar 

  22. Upreti VV, et al. Determination of endogenous glycosaminoglycans derived disaccharides in human plasma by HPLC: validation and application in a clinical study. J Chromatogr B Analyt Technol Biomed Life Sci. 2006;831(1–2):156–62.

    Article  CAS  PubMed  Google Scholar 

  23. Kim HO, Hartnett C, Scaman CH. Free galactose content in selected fresh fruits and vegetables and soy beverages. J Agric Food Chem. 2007;55(20):8133–7.

    Article  CAS  PubMed  Google Scholar 

  24. Hartnett C, Kim HO, Scaman CH. Effect of processing on galactose in selected fruits. Can J Diet Pract Res. 2007;68(1):46–50.

    Article  PubMed  Google Scholar 

  25. Schadewaldt P, et al. Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Genet Metab. 2004;81(1):31–44.

    Article  CAS  PubMed  Google Scholar 

  26. Berry GT, et al. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet. 1995;346(8982):1073–4.

    Article  CAS  PubMed  Google Scholar 

  27. Berry GT, et al. The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol Genet Metab. 2004;81(1):22–30.

    Article  CAS  PubMed  Google Scholar 

  28. Berry GT, et al. Extended [13C]galactose oxidation studies in patients with galactosemia. Mol Genet Metab. 2004;82(2):130–6.

    Article  CAS  PubMed  Google Scholar 

  29. Bosch AM, et al. High tolerance for oral galactose in classical galactosaemia: dietary implications. Arch Dis Child. 2004;89(11):1034–6.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  30. Van Calcar SC, et al. A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Mol Genet Metab. 2014;112(3):191–7.

    Article  PubMed  Google Scholar 

  31. Panis B, et al. Bone metabolism in galactosemia. Bone. 2004;35(4):982–7.

    Article  CAS  PubMed  Google Scholar 

  32. Rubio-Gozalbo ME, et al. Bone mineral density in patients with classic galactosaemia. Arch Dis Child. 2002;87(1):57–60.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  33. Gajewska J, et al. Serum markers of bone turnover in children and adolescents with classic galactosemia. Adv Med Sci. 2008;53(2):214–20.

    Article  CAS  PubMed  Google Scholar 

  34. Kaufman FR, et al. Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia. J Pediatr. 1993;123(3):365–70.

    Article  CAS  PubMed  Google Scholar 

  35. Batey LA, et al. Skeletal health in adult patients with classic galactosemia. Osteoporos Intl. 2013;24(2):501–9.

    Google Scholar 

  36. van Erven B, Römers MM, Rubio-Gozalbo ME. Revised proposal for the prevention of low bone mass in patients with classic galactosemia. JIMD Rep. 2014;17:41–6.

    PubMed Central  PubMed  Google Scholar 

  37. Institute of Medicine. In: Ross AC et al., editors. Dietary reference intakes for calcium and vitamin D. Washington, DC: National Academies Press; 2011. p. 345–403.

    Google Scholar 

  38. Bachrach LK, Sills IN, Section on Endocrinology. Clinical report – bone densitometry in children and adolescents. Pediatrics. 2011;127(1):189–94.

    Article  PubMed  Google Scholar 

  39. Pramyothin P, Holick MF. Vitamin D supplementation: guidelines and evidence for subclinical deficiency. Curr Opin Gastroenterol. 2012;28(2):139–50.

    Article  CAS  PubMed  Google Scholar 

  40. Panis B, van Kroonenburgh MJ, Rubio-Gozalbo ME. Proposal for the prevention of osteoporosis in paediatric patients with classical galactosaemia. J Inherit Metab Dis. 2007;30(6):982.

    Article  CAS  PubMed  Google Scholar 

  41. Bernstein L, et al. Galactosemia: the diet. Aurora: Children’s Hospital Colorado; 2014.

    Google Scholar 

  42. Bernstein L, et al. Galactosemia: school age children. Aurora: Children’s Hospital Colorado; 2014.

    Google Scholar 

  43. Bernstein L, et al. Galactosemia: for new parents. Aurora: Children’s Hospital Colorado; 2014.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Laurie E. Bernstein MS, RD, FADA, FAND .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Bernstein, L.E., van Calcar, S. (2015). The Diet for Galactosemia. In: Bernstein, L., Rohr, F., Helm, J. (eds) Nutrition Management of Inherited Metabolic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-14621-8_25

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-14621-8_25

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-14620-1

  • Online ISBN: 978-3-319-14621-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics