Results 11 to 20 of about 1,137 (152)

A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease [PDF]

Frontiers in Genetics, 2018
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes.
Gang Liu, Dingyuan Ma, Ping Hu, Wen Wang, Chunyu Luo, Yan Wang, Yun Sun, Jingjing Zhang, Tao Jiang, Zhengfeng Xu   +9 more
doaj   +7 more sources

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Molecular Genetics and Metabolism Reports, 2018
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid ...
Ernie Zuraida Ali, Lock-Hock Ngu
doaj   +4 more sources

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Molecular Genetics and Metabolism Reports, 2017
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi ...
Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I. Tahir, Nouf S. Al-Numair, Mohamed H. Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed   +14 more
doaj   +4 more sources

Transcriptome Data Combined With Mendelian Randomization Analysis Identifies Key Genes Associated With Mitochondria and Programmed Cell Death in Intervertebral Disc Degeneration [PDF]

JOR Spine
Background Intervertebral disc degeneration (IDD) is a major cause of cervical and lumbar diseases, significantly impacting patients' quality of life.
Hongfei Nie, Xiao Hu, Jiaxiao Wang, Jia Wang, Xiaoqian Yu, Jun Li   +5 more
doaj   +3 more sources

Molecular basis of various forms of maple syrup urine disease in Chilean patients [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex.
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo Jr   +12 more
doaj   +2 more sources

Identification of gene mutations in six Chinese patients with maple syrup urine disease [PDF]

Frontiers in Genetics, 2023
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing ...
Lulu Li, Xinmei Mao, Nan Yang, Taoyun Ji, Shunan Wang, Yulan Ma, Haihe Yang, Yuting Sang, Jinqi Zhao, Lifei Gong, Yue Tang, Yuanyuan Kong   +11 more
doaj   +2 more sources

Successful domino liver transplantation in maple syrup urine disease using a related living donor [PDF]

Brazilian Journal of Medical and Biological Research, 2014
Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal ...
F.H. Feier, I.K. Miura, E.A. Fonseca, G. Porta, R. Pugliese, A. Porta, I.V.D. Schwartz, A.V.B. Margutti, J.S. Camelo Jr, S.N. Yamaguchi, A.T. Taveira, H. Candido, M. Benavides, V. Danesi, T. Guimaraes, M. Kondo, P. Chapchap, J. Seda Neto   +17 more
doaj   +4 more sources

Differences in gene expression of enzymes involved in branched-chain amino acid metabolism of abdominal subcutaneous adipose tissue between pregnant women with and without PCOS

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: Polycystic ovary syndrome (PCOS) appears to be a common endocrine disorder of women in reproductive age. Adipose tissue (AT) is known as an active tissue in the metabolism of branched-chain amino acids (BCAA; Valine, Leucine, and Isoleucine ...
Shekoufeh Hajitarkhani, Ashraf Moini, Maryam Hafezi, Maryam Shahhoseini, AliReza Alizadeh   +4 more
doaj   +2 more sources

Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease

Journal of Pediatric Endocrinology and Metabolism, 2018
Abstract Background: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD.
Monica, Zeynalzadeh, Alireza, Tafazoli, Azadeh, Aarabi, Morteza, Moghaddassian, Farah, Ashrafzadeh, Massoud, Houshmand, Negin, Taghehchian, Mohammad Reza, Abbaszadegan   +7 more
openaire   +3 more sources

Molecular genetics of maple syrup urine disease in the Turkish population [PDF]

The Turkish Journal of Pediatrics, 2009
In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, Serap H Kalkanoğlu-Sivri, Gülden Fatma Gökçay, Mübeccel Demirkol, Oliver Feyen, Udo Wendel   +7 more
doaj   +3 more sources