Results 11 to 20 of about 2,974 (143)

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

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   +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

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

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   +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

Mothers' Knowledge and Practices Regarding Care of their children Suffering from Maple Syrup Urine Disease. [PDF]

Helwan International Journal for Nursing Research and Practice
Maple syrup urine disease (MSUD) is a rare inherited autosomal recessive neurometabolic disorder, is brought on by diminished activity of the Branched-chain α-ketoacid dehydrogenase complex (BCKDC), which catalysis the irreversible catabolism of branched-
Aisha Ahmed
doaj   +1 more source

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

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

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
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Menkes Maple Syrup Urine Disease: Treatment

Pediatric Neurology Briefs, 1991
Five patients with maple syrup urine disease were treated intra-venously with branched-chain amino acid-free solution of amino acids during nine episodes of acute illness and are reported from the Children’s Hospital of Philadelphia, PA.
J Gordon Millichap
doaj   +1 more source