GuidelineOrphanet journal of rare diseases2025
Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.
Guideline in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.Orphanet journal of rare diseases · 2026Review
- Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.Molecular biology reports · 2025Article
- Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.Orphanet journal of rare diseases · 2025Review
- Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.Epileptic disorders : international epilepsy journal with videotape · 2025Review
Corrections and comments
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Authors and funding
15 authors.
Funding
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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.
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Registered trials
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