Results 1 to 10 of about 11,541 (279)

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation [PDF]

Molecular Genetics and Metabolism Reports, 2021
Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids ...
Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews   +8 more
doaj   +4 more sources

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice [PDF]

Nature Communications, 2022
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain.
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff   +15 more
doaj   +3 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   +3 more sources

Maple syrup urine disease decompensation misdiagnosed as a psychotic event [PDF]

Molecular Genetics and Metabolism Reports, 2022
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine.
Tomoyasu Higashimoto, Matthew T. Whitehead, Erin MacLeod, Danielle Starin, Debra S. Regier   +4 more
doaj   +3 more sources

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   +6 more sources

Pregnancy in an adolescent with maple syrup urine disease: Case report [PDF]

Molecular Genetics and Metabolism Reports, 2021
Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive metabolic disorder that results in elevation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine.
Michelle E. Abadingo, Mary Ann R. Abacan, Jeanne Ruth U. Basas, Carmencita D. Padilla   +3 more
doaj   +3 more sources

PERAWATAN GIGI PADA ANAK DENGAN MAPLE SYRUP URINE DISEASE (LAPORAN KASUS) [PDF]

Journal of Dentistry Indonesia, 2015
Maple Syrup Urine Disease is a disparity of leusin decarboxilation, and isoleusin of valin defect that is synthesized with complex enzyme systems. It is a rare disease and represents disparity.
Tri Fajari, Ismu Suharsono Suwelo
doaj   +3 more sources

Maple Syrup Urine Disease

Radiology
Hassan SA, Gupta V.
europepmc   +4 more sources

Neonatal maple syrup urine disease case report and literature review. [PDF]

Medicine (Baltimore), 2022
Rationale: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. The brain imaging findings were mainly caused by cytotoxic edema.
Liu Q, Li F, Zhou J, Liu X, Peng J, Gong L.   +5 more
europepmc   +2 more sources

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China. [PDF]

QJM
Background Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder originating from defects in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex encoded by BCKDHA, BCKDHB and DBT.
Yang X, Yang R, Zhang T, Tan DJ, Pan R, Chen Z, Wu D, Chen C, Xu Y, Zhang L, Li X, Shu Q, Hu L.   +12 more
europepmc   +2 more sources