Results 61 to 70 of about 1,169 (119)

Case report: maple syrup urine disease with a novel DBT gene mutation

BMC Pediatrics, 2019
Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex.
Wei Feng, Jinfu Jia, Heyang Guan, Qing Tian   +3 more
doaj   +1 more source

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

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   +1 more source

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   +1 more source

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

Orphanet Journal of Rare Diseases
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
Noushin Rostampour, Setila Dalili, Hossein Moravej, Zhila Afshar, Negar Yazdani, Seyedeh Tahereh Mousavi, Parastoo Rostami, Daniel Zamanfar, Maryam Yahay, Abdolhossein Nikravesh, Zahra Beyzaei, Mohamad Ahangar Davoodi, Atefeh Sedaghat, Tahora Hakemzadeh, Ali Talea   +14 more
doaj   +1 more source

Maternal Diabetes Leads to Adaptation in Embryonic Amino Acid Metabolism during Early Pregnancy.

PLoS ONE, 2015
During pregnancy an adequate amino acid supply is essential for embryo development and fetal growth. We have studied amino acid composition and branched chain amino acid (BCAA) metabolism at day 6 p.c. in diabetic rabbits and blastocysts.
Jacqueline Gürke, Frank Hirche, René Thieme, Elisa Haucke, Maria Schindler, Gabriele I Stangl, Bernd Fischer, Anne Navarrete Santos   +7 more
doaj   +1 more source

Integrated Amino Acid Profiling and 4D-DIA Proteomics Reveal Protein Quality Divergence and Metabolic Adaptation in Cordyceps Species

Journal of Fungi
To explore the differences in protein quality among classic medicinal entomopathogenic fungi and to evaluate their metabolic adaptability, we analyzed the amino acid composition and proteomic characteristics of Cordyceps sinensis (CS), Cordyceps ...
Chuyu Tang, Yuejun Fan, Tao Wang, Jie Wang, Mengjun Xiao, Min He, Xiyun Chang, Yuling Li, Xiuzhang Li   +8 more
doaj   +1 more source

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

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2018
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.
N Gorjizadeh, O Jazayeri, S Najavand, M Alijanpour   +3 more
doaj  

Maple syrup urine disease: mechanisms and management

The Application of Clinical Genetics, 2017
Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo ...
Blackburn PR, Gass JM, Vairo FP, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS   +7 more
doaj  

Identification of neoadjuvant chemoradiotherapy resistance-associated proteins in locally advanced rectal cancer: A pilot study. [PDF]

Oncol Lett
He JY, Dong Y, Chen C, Lu FH, Ran FW, Ding Q, Du Y, Liu TR, Zhang YY, Wang T, Chen YH, Zhao X, Xu SL, Li JJ.   +13 more
europepmc   +1 more source

IDH3A Deficiency Compromises Adaptive Thermogenesis and Exacerbates Obesity-Induced Metabolic Dysfunction via Impaired BCKDHA-Dependent BCAA Catabolism. [PDF]

Diabetes
Lu X, Bai N, Lyu J, Sun J, Su Y, Ye Y, Hu T, Liu T, Li W, Li X, Ma X, Yang Y, Bao Y.   +12 more
europepmc   +1 more source