Results 191 to 200 of about 26,062 (264)

Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation

International Journal of Developmental Neuroscience, 2023
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched‐chain α‐ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the branched‐chain amino acids (BCAA) leucine, isoleucine, and valine, as well as ...
M. Deon, Gilian Guerreiro, Julia Girardi, G. Ribas, C. Vargas   +4 more
semanticscholar   +1 more source

PPM1K defects cause mild maple syrup urine disease: The second case in the literature

American Journal of Medical Genetics. Part A, 2023
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism of branched‐chain amino acids. BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched‐chain α‐ketoacid dehydrogenase complex, which is ...
Firat Ozcelik, Sezai Arslan, Busra Ozguc Caliskan, F. Kardaş, Y. Ozkul, M. Dundar   +5 more
semanticscholar   +1 more source

A novel mutation in the DBT gene causes in an Azerbaijanian child classic maple syrup urine disease

Advanced Studies in Biology, 2022
Maple syrup urine disease (MSUD) is a complicated disease that is inherited one. The maple syrup urine disease is accompanied with full or partial disorder of enzyme activity, participating in the metabolism of three amino acids as valine, leucine and ...
L. Huseynova, R. Hagverdiyeva
semanticscholar   +1 more source

Surgical technique and the long‐term outcomes of pediatric living donor domino liver transplantation from patients with maple syrup urine disease

Pediatric Transplantation, 2021
The native liver of patients with maple syrup urine disease (MSUD) (1st recipients) can be used as a graft for non‐MSUD patients with end‐stage liver disease (2nd recipients).
S. Shimizu, S. Sakamoto, A. Fukuda, Y. Yanagi, H. Uchida, Kotaro Mimori, T. Nakao, Chao Sun, R. Horikawa, M. Kasahara   +9 more
semanticscholar   +1 more source

Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2021
Objectives To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature.
Honghua Jiang, Yan Guo, Xian Shen, Ying Wang, Ting-Ting Dai, Hui Rong, Rui Cheng, F. Zhao   +7 more
semanticscholar   +1 more source

Maple Syrup Urine Disease [PDF]

, 1995
Maple syrup urine (MSUD) is a heterogeneous disorder. Classification is based on clinical presentation and outcome. Clinically, four phenotypes can be distinguished: classical, intermediate, intermittent and thiamine-responsive forms of MUSD. All forms have an aurosomal recessive mode of inheritance.
Jacob Valk, Marjo S. van der Knaap
openaire   +1 more source

Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched‐chain alpha ketoacid dehydrogenase (BCKAD) enzymatic complex due to biallelic variants in the alpha (BCKDHA) or beta (BCKDHB) subunits
M. F. Medina, G. Castro, Felipe Falcón, J. Cabello, Víctor Faundes, D. Ruffato, M. F. Salazar, C. Arias, F. Peñaloza, A. de la Parra, V. Cornejo   +10 more
semanticscholar   +1 more source

Hypoglycemia in Maple Syrup Urine Disease

Archives of Pediatrics & Adolescent Medicine, 1967
HYPOGLYCEMIA associated with maple syrup urine disease has been observed by MacKenzie and Woolf, 1 Silberman, et al, 2 Lonsdale and Barber, 3 and Menkes (oral communication, 1966). Several investigators have speculated as to whether the mechanism resembles that of leucine sensitive hypoglycemia as originally described by Cochrane.
George N. Donnell, Kenneth N. F. Shaw, Ellin Lieberman, Richard Koch   +3 more
openaire   +3 more sources

Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.

Pediatrics
OBJECTIVE Maple syrup urine disease (MSUD), a life-threatening metabolic disorder, is included in newborn screening (NBS) programs worldwide. The study aims to evaluate the impact of NBS on the long-term outcome of MSUD patients. METHODS We performed a
Katharina Mengler, S. Garbade, F. Gleich, E. Thimm, Petra May, Martin Lindner, N. Lüsebrink, Thorsten Marquardt, Vanessa Hübner, Johannes Krämer, Julia Neugebauer, S. Beblo, Claus Gillitzer, S. Grünert, Julia B. Hennermann, Clemens Kamrath, Iris Marquardt, A. Näke, Simona Murko, Sebastian Schmidt, Elena Schnabel, Svenja Lommer-Steinhoff, Georg F. Hoffmann, J. Beime, René Santer, S. Kölker, Ulrike Mütze   +26 more
semanticscholar   +1 more source