Skip to main content
Have a personal or library account? Click to login
Skin Lesions Associated with Dietary Management of Maple Syrup Urine Disease: a Case Report Cover

Skin Lesions Associated with Dietary Management of Maple Syrup Urine Disease: a Case Report

Serbian Journal of Dermatology and Venereology
Volume 7 (2015): Issue 4 (December 2015)
By: ,  ,   and    
Open Access
|Apr 2016
References

References

  1. 1. Chuang DT, Wynn RM, Shih VE. Maple syrup urine disease (branched-chain ketoaciduria). In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, editors. The online metabolic and molecular bases of inherited diseases. New York: McGraw-Hill; 2008. p. 1–42.
    Search in Google Scholar
  2. 2. Muelly ER, Moore GJ, Bunce SC, Mack J, Bigler DC, Morton DH, et al. Biochemical correlates of neuropsychiatric illness in maple syrup urine disease. J Clin Invest 2013;123(4):1809-20.
    Open DOISearch in Google Scholar
  3. 3. Knerr I, Weinhold N, Vockley J, Gibson KM. Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. J Inherit Metab Dis 2012;35(1):29-40.
    Open DOISearch in Google Scholar
  4. 4. Yudkoff M, Daikhin Y, Nissim I, Horyn O, Luhovyy B, Lazarow A, et al. Brain amino acid requirements and toxicity: the example of leucine. J Nutr 2005;135(6 Suppl):1531S-8S.
    Open DOISearch in Google Scholar
  5. 5. Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, et al. Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab 2010;99(4):333–45.
    Open DOISearch in Google Scholar
  6. 6. Mescka CP, Guerreiro G, Hammerschmidt T, Faverzani J, de Moura Coelho D, Mandredini V, et al. L-Carnitine supplementation decreases DNA damage in treated MSUD patients. Mutat Res 2015;775:43-7.
    Open DOISearch in Google Scholar
  7. 7. Menkes JH, Hurst PL, Craig JM. A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 1954;14(5):462–7.
    Open DOISearch in Google Scholar
  8. 8. Dancis J, Levits M, Westall RG. Maple syrup urine disease: branched-chain keto-aciduria. Pediatrics 1960;25:72-9.
    Open DOISearch in Google Scholar
  9. 9. Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis 2010;33(Suppl 2):S295-305.
    Open DOISearch in Google Scholar
  10. 10. Axler O, Holmquist P. Intermittent maple syrup urine disease: two case reports. Pediatrics 2014;133(2):e458-60.
    Open DOISearch in Google Scholar
  11. 11. Singh RH, Rohr F, Splett PL. Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines. J Eval Clin Pract 2013;19(4):584–90.
    Open DOISearch in Google Scholar
  12. 12. Mazariegos GV, Morton DH, Sindhi R, Soltys K, Nayyar N, Bond G, et al. Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr 2012;160(1):116–21.
    Open DOISearch in Google Scholar
  13. 13. Templier I, Reymond JL, Nguyen MA, Boujet C, Lantuejoul S, Beani JC, et al. Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency during treatment of maple syrup urine disease. Ann Dermatol Venereol 2006;133(4):375-9.
    Open DOISearch in Google Scholar
  14. 14. Puzenat E, Durbise E, Fromentin C, Humbert P, Aubin F. Iatrogenic acrodermatitis enteropathica-like syndrome in leucinosis. Ann Dermatol Venereol 2004;131(8-9):801-4.
    Open DOISearch in Google Scholar
  15. 15. Tabanlioglu D, Ersoy-Evans S, Karaduman AE. Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term. Pediatr Dermatol 2009;26(2):150-4.
    Open DOISearch in Google Scholar
  16. 16. Arrora K, Das RR, Panda SS, Kabra M. Acrodermatitis enteropathica-like lesions in a neonate. BMJ Case Rep 2013;2013. doi:10.1136/bcr-2013-200190
    Open DOISearch in Google Scholar
  17. 17. Acrodermatitis enteropathica like eruption. In: El-Darouti MA. Challenging cases in dermatology. London: Springer Verlag; 2013. p. 95-9.
    Open DOISearch in Google Scholar
  18. 18. Domínguez-Cruz JJ, Bueno-Delgado M, Pereyra J, Bernabeu-Wittel J, Conejo-Mir J. Acrodermatitis enterophatica-like skin lesions secondary to isoleucine deficiency. Eur J Dermatol 2011;21(1):115-6.
    Open DOISearch in Google Scholar
  19. 19. Oztürk Y. Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency in inborn errors of metabolism. Pediatr Dermatol 2008;25(3):415.
    Open DOISearch in Google Scholar
  20. 20. Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, et al. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab 2014l;112(3):210-7.
    Open DOISearch in Google Scholar
DOI: https://doi.org/10.1515/sjdv-2015-0013 | Journal eISSN: 2406-0631 | Journal ISSN: 1821-0902
Journal RSS Feed
Language: English
Page range: 153 - 162
Published on: Apr 9, 2016
Published by: Serbian Association of Dermatovenereologists (SAD)
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
Maple Syrup Urine Disease,
Diet Therapy,
Infant,
Acrodermatitis,
Isoleucine + deficiency,
Signs and Symptoms,
Treatment Outcome,
Case Reports,
Bulgaria
Related subjects:
Medicine,
Clinical medicine,
Dermatological and veneral diseases

© 2016 Jana Kazandjieva, Dimitrina Guleva, Assia Nikolova, Sonya Márina, published by Serbian Association of Dermatovenereologists (SAD)
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 7 (2015): Issue 4 (December 2015)
Next article