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...
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: | |
Online Access: | http://jbums.org/browse.php?a_code=A-10-4223-1&slc_lang=en&sid=1 |
Similar Items
-
Maple syrup urine disease: mechanisms and management
by: Blackburn PR, et al.
Published: (2017-09-01) -
Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease
by: Thi T. N. Nguyen, et al.
Published: (2020-08-01) -
Case report: maple syrup urine disease with a novel DBT gene mutation
by: Wei Feng, et al.
Published: (2019-12-01) -
Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy
by: Jia-Woei Hou
Published: (2016-10-01) -
A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease
by: Gang Liu, et al.
Published: (2018-04-01)