Published July 11, 2023 | Version v1
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Symptoms, Treatment, Complications as well as Prognosis of Classic Maple Syrup Urine Disease (MSUD), Metabolic Instability, Neurological Complications and Treatment Of Intermediate MSUD, Case Studies as well as Success Stories of Thiamine Responsive MSUD

  • 1. Assistant Professor, College of Veterinary Science, Korutla, PVNRTVU, Telengana, Hyderabad, India
  • 2. Veterinay Doctor, College of veterinary science, Proddatur, Andhra Pradesh, India
  • 3. Associate Professor, College of veterinary science, Proddatur, Andhra Pradesh, India
  • 4. Staff, Indian Veterinary Research Institute (IVRI), Izathnagar 243122 Barielly district, Uttar Pradesh, India
  • 5. Assistant General Manager, Vaishnavi Bio pharma pvt. Ltd., Telanagana, India
  • 6. Assistant Professor, Contract Teaching Faculty, College of veterinary, science, Proddatur, Andhra Pradesh, India

Description

Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder manifested by the impaired catabolism of certain amino acids. This disorder results in the collection of toxic substances in the body, leading to a range of symptoms and complications. MSUD is categorized into different types dependent on the specific enzyme deficiencies involved in the disease. This review article aims to provide a comprehensive overview of the types of MSUD, along with their clinical features, genetic basis, diagnostic methods, and management strategies.

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References

  • 1. Edelmann, L., Wasserstein, M. P., Kornreich, R., Sansaricq, C., Snyderman, S. E., & Diaz, G. A. (2001). Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. The American Journal of Human Genetics, 69(4), 863-868.
  • 2. Blackburn, P. R., & Gass, J. M. (2017). e Vairo FP, Farnham KM, Atwal HK, Macklin S, Klee EW, et al. Maple syrup urine disease: mechanisms and management. Appl. Clin. Genet, 10, 57.
  • 3. Strauss, K. A., Puffenberger, E. G., & Carson, V. J. (2020). Maple syrup urine disease.
  • 4. Quental, S., Macedo-Ribeiro, S., Matos, R., Vilarinho, L., Martins, E., Teles, E. L., ... & Prata, M. J. (2008). Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Molecular genetics and metabolism, 94(2), 148-156.
  • 5. Suryawan, A., Hawes, J. W., Harris, R. A., Shimomura, Y., Jenkins, A. E., & Hutson, S. M. (1998). A molecular model of human branched-chain amino acid metabolism. The American journal of clinical nutrition, 68(1), 72-81.
  • 6. Lynch, C. J., & Adams, S. H. (2014). Branched-chain amino acids in metabolic signalling and insulin resistance. Nature Reviews Endocrinology, 10(12), 723-736.
  • 7. Morton, D. H., Strauss, K. A., Robinson, D. L., Puffenberger, E. G., & Kelley, R. I
  • 8. Scaini, G., Morais, M. O., Galant, L. S., Vuolo, F., Dall'Igna, D. M., Pasquali, M. A., ... & Streck, E. L. (2014). Coadministration of branched-chain amino acids and lipopolysaccharide causes matrix metalloproteinase activation and blood–brain barrier breakdown. Molecular neurobiology, 50, 358-367.
  • 9. Hallam, P., Lilburn, M., & Lee, P. J. (2005). A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD). Journal of inherited metabolic disease, 28(5), 665-672.
  • 10. Frazier, D. M., Allgeier, C., Homer, C., Marriage, B. J., Ogata, B., Rohr, F., ... & Singh, R. H. (2014). Nutrition management guideline for maple syrup urine disease: an evidence-and consensus-based approach. Molecular genetics and metabolism, 112(3), 210-217.