The Genes Responsible for Maple Syrup Urine Disease, Molecular Pathomechanisms and Causative Mutations in Iranian Population

BACKGROUND AND OBJECTIVE: Maple syrup urine disease is a rare inborn metabolic inherited disorder caused by deficiency of branched chain α-keto acid dehydrogenase complex and leading to accumulation of branched chain amino acids in body fluid. The incidence of MSUD is higher in populations with high...

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Bibliographic Details
Main Authors: N Gorjizadeh, O Jazayeri, S Najavand, M Alijanpour
Format: Article
Language:English
Published: Babol University of Medical Sciences 2018-12-01
Series:Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul
Subjects:
DBT
DLD
Online Access:http://jbums.org/browse.php?a_code=A-10-4223-1&slc_lang=en&sid=1