Orphanet journal of rare diseases · 2025
Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.
РекомендацииСтатьяОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Rostampour Noushin, Dalili Setila, Moravej Hossein, Afshar Zhila, Yazdani Negar, Mousavi Seyedeh Tahereh, Rostami Parastoo, Zamanfar Daniel, Yahay Maryam, Nikravesh Abdolhossein, Beyzaei Zahra, Davoodi Mohamad Ahangar, Sedaghat Atefeh, Hakemzadeh Tahora, Talea Ali
Аннотация
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.