Results 21 to 30 of about 8,782 (207)

Maple Syrup Urine Disease [PDF]

BMJ, 1964
MAPLE-syrup-urine disease is now well documented as being an inborn error of metabolism.1 The purpose of this paper is to present another case of the disease in an infant boy, together with his family pedigree and a report of the emergency measures taken to arrest the fatal course of the disease.
M A, VOYCE, J N, MONTGOMERY, G A, LYNCH, J K, BOWMAN   +3 more
openaire   +4 more sources

An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene

Stem Cell Research, 2021
Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-
Bin Wang, Chen Liu, Haiyan Zhang, Zhongtao Gai, Yi Liu   +4 more
doaj   +1 more source

Maple Syrup Urine Disease

Radiology
Hassan SA, Gupta V.
europepmc   +3 more sources

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

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

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