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

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

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
Talea A¹³

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.

Experts (# of related papers)

Ghazaleh Jamalipour Soufi (1)

Style	Citing Format
MLA	Rostampour N, et al.. "Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach." Orphanet Journal of Rare Diseases, vol. 20, no. 1, 2025, pp. -.
APA	Rostampour N, Dalili S, Moravej H, Afshar Z, Yazdani N, Mousavi ST, Rostami P, Zamanfar D, Yahay M, Nikravesh A, Beyzaei Z, Davoodi MA, Sedaghat A, Hakemzadeh T, Talea A (2025). Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach. Orphanet Journal of Rare Diseases, 20(1), -.
Chicago	Rostampour N, Dalili S, Moravej H, Afshar Z, Yazdani N, Mousavi ST, Rostami P, et al.. "Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach." Orphanet Journal of Rare Diseases 20, no. 1 (2025): -.
Harvard	Rostampour N et al. (2025) 'Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach', Orphanet Journal of Rare Diseases, 20(1), pp. -.
Vancouver	Rostampour N, Dalili S, Moravej H, Afshar Z, Yazdani N, Mousavi ST, et al.. Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach. Orphanet Journal of Rare Diseases. 2025;20(1):-.
BibTex	@article{ author = {Rostampour N and Dalili S and Moravej H and Afshar Z and Yazdani N and Mousavi ST and Rostami P and Zamanfar D and Yahay M and Nikravesh A and Beyzaei Z and Davoodi MA and Sedaghat A and Hakemzadeh T and Talea A}, title = {Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach}, journal = {Orphanet Journal of Rare Diseases}, volume = {20}, number = {1}, pages = {-}, year = {2025} }
RIS	TY - JOUR AU - Rostampour N AU - Dalili S AU - Moravej H AU - Afshar Z AU - Yazdani N AU - Mousavi ST AU - Rostami P AU - Zamanfar D AU - Yahay M AU - Nikravesh A AU - Beyzaei Z AU - Davoodi MA AU - Sedaghat A AU - Hakemzadeh T AU - Talea A TI - Comprehensive Iranian Guidelines for the Diagnosis and Management of Maple Syrup Urine Disease: An Evidence- and Consensus- Based Approach JO - Orphanet Journal of Rare Diseases VL - 20 IS - 1 SP - EP - PY - 2025 ER -

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Abstract