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Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.

Mutation research - 1 Apr 2016

Abiri Maryam, Karamzadeh Razieh, Karimipoor Morteza, Ghadami Shirin, Alaei Mohammad Reza, Bagheri Samira Dabagh, Bagherian Hamideh, Setoodeh Aria, Noori-Daloii Mohammad Reza, Sirous Zeinali

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare inborn error of branched-chain amino acid metabolism. The disease prevalence is higher in populations with elevated rate of consanguineous marriages such as Iran. Different types of disease causing mutations have been previously reported in BCKDHA, BCKDHB, DBT and DLD genes known to be responsible for MSUD phenotype. In this study, two sets of multiplex polymorphic STR...

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Amino Acids, Branched-Chain
Computational Biology
Gene Deletion
Iran
Isoleucine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Maple Syrup Urine Disease

Protein Conformation

Source

Identifiers

PMID: 26901124
DOI: 10.1016/j.mrfmmm.2016.01.005

Genes

BCKDHA
BCKDHB
DBT
DLD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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