Results 31 to 40 of about 5,966 (238)

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

JIMD Reports, 2021
Maple syrup urine disease (MSUD) is a rare inborn metabolic disorder, managed with a strict protein‐restricted diet. At any time or age patients may still experience metabolic decompensations, requiring administration of branched chain amino acid (BCAA ...
Pascale de Lonlay, Roland Posset, Ulrike Mütze, Karine Mention, Delphine Lamireau, Manuel Schiff, Aude Servais, Jean Baptiste Arnoux, Anaïs Brassier, Myriam Dao, Claire Douillard, Chris Ottolenghi, Clément Pontoizeau, Federica Miotto, Jeannie Le Mouhaër   +14 more
openalex   +3 more sources

Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates

Journal of Inherited Metabolic Disease, 2023
Maple syrup urine disease (MSUD) is an inborn error of branched‐chain amino acid metabolism affecting several thousand individuals worldwide. MSUD patients have elevated levels of plasma leucine and its metabolic product α‐ketoisocaproate (KIC), which ...
K. Skvorak, Joyce Liu, Nikki Kruse, Roasa Mehmood, Subhamoy Das, S. Jenne, Chinping Chng, U. Loi Lao, Da Duan, Jonathan Asfaha, Faye Du, Leann Teadt, Antionette Sero, C. Ching, J. Riggins, L. Pope, Ping Yan, Harminder Mashiana, Moulay Hicham Alaoui Ismaili, K. McCluskie, G. Huisman, Adam P. Silverman   +21 more
semanticscholar   +1 more source

Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al [PDF]

Molecular Genetics and Metabolism Reports
Chika Takano, Erika Ogawa, Natsuko Arai-Ichinoi, Mika Ishige   +3 more
doaj   +2 more sources

Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease [PDF]

Annals of Indian Academy of Neurology
Hui Zhu, Yi Zhong, Shuyao Zhu
doaj   +2 more sources

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

American Journal of Medical Genetics. Part A, 2022
Maple syrup urine disease (MSUD) is an intoxication‐type inherited metabolic disorder in which hyperleucinemia leads to brain swelling and death without treatment.
C. Billington, K. Chapman, E. Leon, B. Meltzer, Seth I. Berger, Matthew W Olson, R. Figler, S. Hoang, Cui Wanxing, B. Wamhoff, M. S. Collado, K. Cusmano-Ozog   +11 more
semanticscholar   +1 more source

A Case of Maple Syrup Urine Disease Diagnosed in Adulthood

Annals of Internal Medicine: Clinical Cases, 2022
Classic maple syrup urine disease (MSUD) is typically diagnosed in newborns, whereas nonclassic forms may manifest at any age. We describe a 58-year-old man presenting with recurrent encephalopathy, found with a nonclassic form of MSUD. This patient case
Janaki D. Vakharia, Matthew L. Lorenz, Chanika Phornphutkul   +2 more
doaj   +1 more source

Features of clinical manifestations and treatment of individual nosological forms of hereditary metabolic diseases

Лечащий Врач, 2021
We reviewed main clinical approaches to diagnostics and therapy of key life-threatening hereditary amino-acid metabolism diseases related to the group of organic acidurias, such as maple syrup urine disease (MSUD).
L. V. Goroshko, E. G. Bakulina
doaj   +1 more source

Leucinosis, or maple syrup urine disease (lecture and a clinical case)

Alʹmanah Kliničeskoj Mediciny, 2020
Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex.
Ju. A. Tsareva, N. I. Zryachkin, M. A. Kuznetsova, E. V. Bogacheva   +3 more
doaj   +1 more source

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

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   +1 more source

Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders

International Journal of Neonatal Screening, 2022
Most state newborn screening programs in the U.S. currently contribute case data to the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs).
Amel Omari, Sarah L. Reeves, Lisa A. Prosser, Melissa S. Creary, Ayesha Ahmad, Kao-Ping Chua   +5 more
doaj   +1 more source