Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach

Noushin Rostampour; Setila Dalili; Hossein Moravej; Zhila Afshar; Negar Yazdani; Seyedeh Tahereh Mousavi; Parastoo Rostami; Daniel Zamanfar; Maryam Yahay; Abdolhossein Nikravesh; Zahra Beyzaei; Mohamad Ahangar Davoodi; Atefeh Sedaghat; Tahora Hakemzadeh; Ali Talea

doi:10.1186/s13023-025-03533-6

Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach

Orphanet J Rare Dis. 2025 Jan 7;20(1):8. doi: 10.1186/s13023-025-03533-6.

Authors

Affiliations

¹ Liver Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
² Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
³ Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. [email protected].
⁴ Department of Pediatrics Endocrinology, Shiraz University of Medical Sciences, Shiraz, Iran.
⁵ Community Based Psychiatric Care Research Center, School of Nursing and Midwifery, Shiraz University of Medical Sciences, Shiraz, Iran.
⁶ Assisstant Professor of Pediatrics Endocrinology, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran. [email protected].
⁷ Division of Endocrinology and Metabolism, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
⁸ Diabetic Research Center, Mazandaran University of Medical Sciences, Mazandaran, Iran.
⁹ Department of Clinical Nutrition Food Sciences & Technology, School of Nutrition & Food Sciences, Isfahan University of Medical Sciences, Isfahan, Iran.
¹⁰ Department of Pediatric Endocrinology & Metabolism, Bushehr University of Medical Sciences, Bushehr, Iran.
¹¹ Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran.
¹² Department of Pediatric Endocrinology & Metabolism, Arak University of Medical Sciences, Clinical Research Development Center of Amirkabir Hospital, Arak, Iran.
¹³ Pediatric Endocrinologist, Metabolic Disorders Research Center, Molecular-cellular Endocrinology & Metabolism Research Institute, Tehran University of medical Sciences, Tehran, Iran.

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.

Keywords: BCKDHA; BCKDHB; Inherited metabolic disorder; Maple syrup urine disease.

Publication types

Guideline
Review

MeSH terms

Consensus
Humans
Iran
Maple Syrup Urine Disease* / diagnosis
Maple Syrup Urine Disease* / genetics
Maple Syrup Urine Disease* / therapy