Results 21 to 30 of about 883 (149)

Symptoms, Treatment, Complications as well as Prognosis of Classic Maple Syrup Urine Disease (MSUD), Metabolic Instability, Neurological Complications and Treatment Of Intermediate MSUD, Case Studies as well as Success Stories of Thiamine Responsive MSUD

, 2023
Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder manifested by the impaired catabolism of certain amino acids. This disorder results in the collection of toxic substances in the body, leading to a range of symptoms and complications.
Vinayasree. C, Mohan Naidu. K, Muralinath. E, Amrutham Sandeep, Venkat Naveen. A, Guruprasad. M, Sravani Pragna. K   +6 more
openaire   +2 more sources

l-Carnitine supplementation decreases DNA damage in treated MSUD patients [PDF]

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2015
Maple syrup urine disease (MSUD) is an inherited disorder caused by severe deficient activity of the branched-chain α-keto acid dehydrogenase complex involved in the degradation pathway of branched-chain amino acids (BCAAs) and their α-ketoacid derivatives.
Caroline Paula, Mescka, Gilian, Guerreiro, Tatiane, Hammerschmidt, Jéssica, Faverzani, Daniella, de Moura Coelho, Vanusa, Mandredini, Carlos Alberto Yasin, Wayhs, Moacir, Wajner, Carlos Severo, Dutra-Filho, Carmen Regla, Vargas   +9 more
openaire   +2 more sources

Meiotic Silencing in Dothideomycetous Bipolaris maydis

Frontiers in Fungal Biology, 2022
The filamentous ascomycete Bipolaris maydis is a plant pathogen that causes corn leaf blight and has been used in cytological studies of sexual reproduction.
Kenya Tsuji, Kenya Tsuji, Yuki Kitade, Akira Yoshimi, Akira Yoshimi, Chihiro Tanaka, Chihiro Tanaka   +6 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

Production and characterization of murine models of classic and intermediate maple syrup urine disease

BMC Medical Genetics, 2006
Background Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency.
Watkins Simon, Ferguson Carolyn, Skvorak Kristen, Homanics Gregg E, Paul Harbhajan S   +4 more
doaj   +1 more source

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Orphanet Journal of Rare Diseases, 2020
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo   +17 more
doaj   +1 more source

Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease

Journal of Inborn Errors of Metabolism and Screening, 2021
Elevation of branched-chain amino acids (BCAAs) in biological fluids indicates a deficiency in the branched-chain ketoacid dehydrogenase complex, which causes maple syrup urine disease (MSUD).
K. Fuenzalida, A. Valiente, A. Faundez, P. Guerrero, V. Soto, M.J. Leal-Witt, J.F. Cabello, V. Cornejo   +7 more
doaj   +1 more source

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases

Diagnostic and Interventional Radiology, 2017
PURPOSE:We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD).METHODS:This retrospective study consisted of 10 MSUD patients confirmed by genetic testing.
Ailan Cheng, Lianshu Han, Yun Feng, Huimin Li, Rong Yao, Dengbin Wang, Biao Jin   +6 more
doaj   +1 more source

Nutrient management in the intrapartum period in maternal maple syrup urine disease

Molecular Genetics and Metabolism Reports, 2021
Women with congenital amino acid disorders, including maple syrup urine disease (MSUD), are at risk of metabolic crisis at delivery. There are still only a few case reports of maternal MSUD globally, and we are the first to report the successful ...
Chika Takano, Mika Ishige, Erika Ogawa, Nobuhiko Nagano, Tamaki Morohashi, Aya Okahashi, Kaori Kawakami, Atsushi Komatsu, Kei Kawana, Tatsuhiko Urakami, Ichiro Morioka   +10 more
doaj   +1 more source

Unlocking hope: domino liver transplantation for maple syrup syndrome, a single center experience work carried out at the King Fahad Specialist Hospital

Frontiers in Immunology
BackgroundMaple Syrup Urine Disease (MSUD) is an autosomal recessive disorder caused by mutations in the BCKDH complex, leading to the accumulation of branched-chain amino acids.
Mohammed Al Qahtani, Rawan Aloufi, Ethar Gaw, Hammam Momani, Bodhisatwa Sengupta, Iftikhar Khan, Ibrahim Hassan, Razan Bader, Rehab Abdullah, Mansour Tawfeeq, Ahmed Zidan, Ahmed Zidan   +11 more
doaj   +1 more source