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

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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Main Authors: 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
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Maple syrup urine disease
Inherited metabolic disorder
BCKDHA
BCKDHB
Online Access:https://doi.org/10.1186/s13023-025-03533-6
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