Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach
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....
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| Language: | English |
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BMC
2025-01-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03533-6 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Noushin Rostampour |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-444a59f31c16429695ce2410a49249b9 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-444a59f31c16429695ce2410a49249b92025-01-12T12:39:28ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-0120111110.1186/s13023-025-03533-6Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approachNoushin Rostampour0Setila Dalili1Hossein Moravej2Zhila Afshar3Negar Yazdani4Seyedeh Tahereh Mousavi5Parastoo Rostami6Daniel Zamanfar7Maryam Yahay8Abdolhossein Nikravesh9Zahra Beyzaei10Mohamad Ahangar Davoodi11Atefeh Sedaghat12Tahora Hakemzadeh13Ali Talea14Liver Disease Research Center, Isfahan University of Medical SciencesPediatric Diseases Research Center, Guilan University of Medical SciencesNeonatal Research Center, Shiraz University of Medical SciencesDepartment of Pediatrics Endocrinology, Shiraz University of Medical SciencesCommunity Based Psychiatric Care Research Center, School of Nursing and Midwifery, Shiraz University of Medical SciencesAssisstant Professor of Pediatrics Endocrinology, School of Medicine, Bushehr University of Medical SciencesDivision of Endocrinology and Metabolism, Department of Pediatrics, Children’s Medical Center, Tehran University of Medical SciencesDiabetic Research Center, Mazandaran University of Medical SciencesDepartment of Clinical Nutrition Food Sciences & Technology, School of Nutrition & Food Sciences, Isfahan University of Medical SciencesDepartment of Pediatric Endocrinology & Metabolism, Bushehr University of Medical SciencesShiraz Transplant Research Center (STRC), Shiraz University of Medical SciencesDepartment of Pediatric Endocrinology & Metabolism, Arak University of Medical Sciences, Clinical Research Development Center of Amirkabir HospitalDepartment of Pediatrics Endocrinology, Shiraz University of Medical SciencesPediatric Diseases Research Center, Guilan University of Medical SciencesPediatric Endocrinologist, Metabolic Disorders Research Center, Molecular-cellular Endocrinology & Metabolism Research Institute, Tehran University of medical SciencesAbstract 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.https://doi.org/10.1186/s13023-025-03533-6Maple syrup urine diseaseInherited metabolic disorderBCKDHABCKDHB |
| spellingShingle | 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 Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach Orphanet Journal of Rare Diseases Maple syrup urine disease Inherited metabolic disorder BCKDHA BCKDHB |
| title | Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach |
| title_full | Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach |
| title_fullStr | Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach |
| title_full_unstemmed | Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach |
| title_short | Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach |
| title_sort | comprehensive iranian guidelines for the diagnosis and management of maple syrup urine disease an evidence and consensus based approach |
| topic | Maple syrup urine disease Inherited metabolic disorder BCKDHA BCKDHB |
| url | https://doi.org/10.1186/s13023-025-03533-6 |
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