Table of Contents Author Guidelines Submit a Manuscript
Journal of Nutrition and Metabolism
Volume 2017, Article ID 8570469, 7 pages
https://doi.org/10.1155/2017/8570469
Research Article

Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake

1National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, Ireland
2Department of Research, Temple Street Children’s University Hospital, Dublin, Ireland
3Department of Laboratory Medicine, Temple Street Children’s University Hospital, Dublin, Ireland

Correspondence should be addressed to Orla Purcell; ei.huc@llecrup.alro

Received 13 June 2017; Accepted 11 September 2017; Published 15 November 2017

Academic Editor: Pedro Moreira

Copyright © 2017 Orla Purcell et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. S. Mudd, H. Levy, and F. Skovby, “Disorders of transulfuration,” in The Metabolic and Molecular bases of Inherited Disease, C. R. Scriver, A. L. Baeudet, W. S. Sly, and D. Valle, Eds., pp. 1279–1327, McGraw-Hill, New York, NY, USA, 7th edition, 1995. View at Google Scholar
  2. H. Gan-Schreier, M. Kebbewar, J. Fang-Hoffmann et al., “Newborn Population Screening for Classic Homocystinuria by Determination of Total Homocysteine from Guthrie Cards,” Journal of Pediatrics, vol. 156, no. 3, pp. 427–432, 2010. View at Publisher · View at Google Scholar · View at Scopus
  3. S. Yap, Homocystinuria due to cystathionine β-synthase deficiency,” 2005, Orphanet encyclopaedia http://www.orpha.net/data/patho/BG/uk-CbS.pdf.
  4. S. Yap and E. Naughten, “Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control,” Journal of Inherited Metabolic Disease, vol. 21, no. 7, pp. 738–747, 1998. View at Publisher · View at Google Scholar · View at Scopus
  5. S. H. Mudd, F. Skovby, H. L. Levy et al., “The natural history of homocystinura due to cystathionine β-synthase deficiency,” American Journal of Human Genetics, vol. 37, no. 1, pp. 1–31, 1985. View at Google Scholar · View at Scopus
  6. A. A. M. Morris, V. Kozich, S. Santra et al., “Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency,” Journal of Inherited Metabolic Disease, vol. 40, no. 1, pp. 49–74, 2017. View at Publisher · View at Google Scholar · View at Scopus
  7. S. Adam, M. F. Almeida, E. Carbasius Weber et al., “Dietary practices in pyridoxine non-responsive homocystinuria: A European survey,” Molecular Genetics and Metabolism, vol. 110, no. 4, pp. 454–459, 2013. View at Publisher · View at Google Scholar · View at Scopus
  8. A. Lawson-Yuen and H. L. Levy, “The use of betaine in the treatment of elevated homocysteine,” Molecular Genetics and Metabolism, vol. 88, no. 3, pp. 201–207, 2006. View at Publisher · View at Google Scholar · View at Scopus
  9. Great Ormond Street Hospital for Children NHS Foundation Trust, Nutritional Requirements for Children in Health and Disease, 3rd edition, 2000.
  10. Southeast NBS & Genetics Collaborative and Genetic Metabolic Dietitians International. PKU Nutrition Management Guidelines, 1st edition, 2015. Retrieved from https://southeastgenetics.org/ngp/guidelines.php/90/PKU%20Nutrition%20Guidelines/Version%201.12.
  11. P. B. Acosta and S. Yannicelli, Nutrition Support Protocols: The Ross Metabolic Formula System, Ross Products Division, Abbot Laboratories, Columbus, OH, 4th edition, 2001.
  12. T. L. Perry, H. G. Dunn, S. Hansen, L. MacDougall, and P. D. Warrington, “Early diagnosis and treatment of homocystinuria.,” Pediatrics, vol. 37, no. 3, pp. 502–505, 1966. View at Google Scholar · View at Scopus
  13. C. Sansaricq, S. Garg, P. M. Norton et al., “Cystine deficiency during dietotherapy of homocystinemia,” Acta Paediatrica, vol. 64, pp. 215–218, 1975. View at Google Scholar
  14. P. J. Lee and A. Briddon, “A rationale for cystine supplementation in severe homocystinuria,” Journal of Inherited Metabolic Disease, vol. 30, no. 1, pp. 35–38, 2007. View at Publisher · View at Google Scholar · View at Scopus
  15. H. Pan and T. J. Cole, 2012, LMS Growth, a Microsoft Excel add-in to access growth references based on the LMS method. Version 2.77. http://www.healthforallchildren.com/product-category/shop/software/.
  16. J. V. Freeman, T. J. Cole, S. Chinn, P. R. M. Jones, E. M. White, and M. A. Preece, “Cross sectional stature and weight reference curves for the UK, 1990,” Archives of Disease in Childhood, vol. 73, no. 1, pp. 17–24, 1995. View at Publisher · View at Google Scholar · View at Scopus
  17. C. M. Wright, A. F. Williams, D. Elliman et al., “Using the new UK-WHO growth charts,” BMJ, vol. 340, no. mar15 1, pp. c1140–c1140, 2010. View at Publisher · View at Google Scholar
  18. T. J. Cole, “Secular trends in growth,” Proceedings of the Nutrition Society, vol. 59, no. 2, pp. 317–324, 2000. View at Publisher · View at Google Scholar · View at Scopus
  19. A. K. Elshorbagy, E. Nurk, C. G. Gjesdal et al., “Homocysteine, cysteine, and body composition in the Hordaland Homocysteine Study: does cysteine link amino acid and lipid metabolism?” American Journal of Clinical Nutrition, vol. 88, no. 3, pp. 738–746, 2008. View at Google Scholar · View at Scopus
  20. S. Yap, “Classical homocystinuria – newborn screening with early treatment effectively prevents complications,” Hamdan Medical Journal, vol. 5, no. 3, pp. 351–362, 2012. View at Publisher · View at Google Scholar
  21. G. Cutberto, E. Borghi, A. W. Onyango et al., “Parental height and child growth from birth to 2 years in the WHO Multicentre Growth Reference Study,” Maternal and Child Nutrition, vol. 9, no. 2, pp. 58–68, 2013. View at Google Scholar
  22. P. B. Acosta, “Inherited Disorders of Sulfur Amino Acid Metabolism , in,” in Nutrition Management of Patients with Inherited Metabolic Disorders.Jones and Barlett Publishers, LLC, Massachusetts, p. 252, 1st edition, 2010. View at Google Scholar
  23. S. S. Gropper and P. B. Acosta, “Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid and urea nitrogen concentrations in humans,” Journal of Parenteral and Enteral Nutrition, vol. 15, no. 1, pp. 48–53, 1991. View at Publisher · View at Google Scholar · View at Scopus
  24. S. S. Gropper, D. M. Gropper, and P. B. Acosta, “Plasma amino acid response to ingestion of l-amino acids and whole protein,” Journal of Pediatric Gastroenterology and Nutrition, vol. 16, no. 2, pp. 143–150, 1993. View at Publisher · View at Google Scholar · View at Scopus
  25. J. L. Smith, C. Arteaga, and S. B. Heymsfield, “Increased ureagenesis and impaired nitrogen use during infusion of a synthetic amino acid formula. A controlled trial,” The New England Journal of Medicine, vol. 306, no. 17, pp. 1013–1018, 1982. View at Publisher · View at Google Scholar · View at Scopus