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Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach Publisher Pubmed



Rostampour N1 ; Dalili S2 ; Moravej H3 ; Afshar Z4 ; Yazdani N5 ; Mousavi ST6 ; Rostami P7 ; Zamanfar D8 ; Yahay M9 ; Nikravesh A10 ; Beyzaei Z11 ; Davoodi MA12 ; Sedaghat A4 ; Hakemzadeh T2 Show All Authors
Authors
  1. Rostampour N1
  2. Dalili S2
  3. Moravej H3
  4. Afshar Z4
  5. Yazdani N5
  6. Mousavi ST6
  7. Rostami P7
  8. Zamanfar D8
  9. Yahay M9
  10. Nikravesh A10
  11. Beyzaei Z11
  12. Davoodi MA12
  13. Sedaghat A4
  14. Hakemzadeh T2
  15. Talea A13
Show Affiliations
Authors Affiliations
  1. 1. Liver Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
  3. 3. Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
  4. 4. Department of Pediatrics Endocrinology, Shiraz University of Medical Sciences, Shiraz, Iran
  5. 5. Community Based Psychiatric Care Research Center, School of Nursing and Midwifery, Shiraz University of Medical Sciences, Shiraz, Iran
  6. 6. Assisstant Professor of Pediatrics Endocrinology, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran
  7. 7. Division of Endocrinology and Metabolism, Department of Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Diabetic Research Center, Mazandaran University of Medical Sciences, Mazandaran, Iran
  9. 9. Department of Clinical Nutrition Food Sciences & Technology, School of Nutrition & Food Sciences, Isfahan University of Medical Sciences, Isfahan, Iran
  10. 10. Department of Pediatric Endocrinology & Metabolism, Bushehr University of Medical Sciences, Bushehr, Iran
  11. 11. Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran
  12. 12. Department of Pediatric Endocrinology & Metabolism, Arak University of Medical Sciences, Clinical Research Development Center of Amirkabir Hospital, Arak, Iran
  13. 13. Pediatric Endocrinologist, Metabolic Disorders Research Center, Molecular-cellular Endocrinology & Metabolism Research Institute, Tehran University of medical Sciences, Tehran, Iran

Source: Orphanet Journal of Rare Diseases Published:2025


Abstract

Maple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain is the major organ involved in MSUD. MSUD happens in about 1 in 86,800 to 185,000 live births. According to some diversity in the management of Iranian patients with MSUD, the development of a national guideline is essential. This guideline is provided through a literature search on articles in PubMed, Scopus, Web of Sciences, Cochrane, and Embase databases from 2001 to 2022 accompanied by a consensus of physicians of different centers in Iran who are experts in the diagnosis and management of this disease. This article considers pathogenesis, epidemiology, clinical manifestations, diagnosis, treatment, and monitoring of MSUD patients with limited recourse. © The Author(s) 2025.
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