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

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

in Acidosis / Amino acids / BCKDHA / BCKDHB / Care and treatment / Child development / Childhood / Coma / Consensus / Dehydrogenases / Diagnosis / Disease / Dystonia / Enzymes / Epidemiology / Genotype & phenotype / Human Genetics / Humans / Illnesses / Inherited metabolic disorder / Iran / Maple syrup urine disease / Maple Syrup Urine Disease - diagnosis / Maple Syrup Urine Disease - genetics / Maple Syrup Urine Disease - therapy / Medical research / Medicine / Medicine & Public Health / Medicine, Experimental / Metabolic disorders / Odors / Patients / Pharmacology/Toxicology / Physicians / Physiological aspects / Plasma / Practice guidelines (Medicine) / Review / Urine / Vitamin B

2025

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

2025

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

2025

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Journal Article

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

Zamanfar, Daniel,

Beyzaei, Zahra,

Moravej, Hossein,

Nikravesh, Abdolhossein,

Yahay, Maryam,

Davoodi, Mohamad Ahangar,

Hakemzadeh, Tahora,

Talea, Ali,

Rostampour, Noushin,

Afshar, Zhila,

Dalili, Setila,

Sedaghat, Atefeh,

Yazdani, Negar,

Mousavi, Seyedeh Tahereh,

Rostami, Parastoo

2025

Overview

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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Publisher

BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC

Subject

Acidosis

/ Amino acids

/ BCKDHA

/ BCKDHB

/ Care and treatment

/ Child development

/ Childhood