Results 41 to 50 of about 11,541 (279)

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

Clinical perspective on the use of human amniotic epithelial cells to treat congenital metabolic diseases with a focus on maple syrup urine disease

Stem Cells Translational Medicine, 2021
Congenital metabolic diseases are a group of hereditary disorders caused by the deficiency of a single specific enzyme activity. Without appropriate therapy, affected patients suffer severe neurologic disability and eventual death.
Chika Takano, B. Grubbs, Mika Ishige, E. Ogawa, I. Morioka, S. Hayakawa, T. Miki   +6 more
semanticscholar   +1 more source

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease [PDF]

, 2009
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with lifethreatening cerebral oedema and dysmyelination in affected individuals.
Ara  jo, Ba  os, Cremer, Crome, Daniel, Dhopeshwarkar, Dodd, G. E. Homanics, H. S. Paul, Hariharan, Hauber, Homanics, J. Lazovic, J. M. Flanagan, Jan, K. C. Cheng, K. F. LaNoue, K. Griffin, K. J. Skvorak, Kamei, Killian, Le Masurier, Lowry, Lo  , M. C. Bewley, Mackenzie, McKean, Morton, O'Callaghan, Ouary, Patel, Patel, Regunathan, Schadewaldt, Schmithorst, Schonberger, Sgaravatti, She, SILBERMAN, Simon, Tews, W. J. Zinnanti, Wajner, Williamson, Yudkoff   +44 more
core   +2 more sources

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

Scientific Reports, 2021
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males)
X. Fang, Xiaofan Zhu, Yin Feng, Ying Bai, Xuechao Zhao, N. Liu, X. Kong   +6 more
semanticscholar   +1 more source

Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders

International Journal of Molecular Sciences, 2020
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain amino acids (BCAAs).
Jinge Xu, Youseff Jakher, Rebecca C. Ahrens-Nicklas   +2 more
semanticscholar   +1 more source

Brain magnetic resonance imaging findings and radiologic review of maple syrup urine disease: Report of three cases

World Journal of Clinical Cases, 2021
BACKGROUND Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder that affects branched-chain amino acid (BCAA) metabolism and is named after the distinctive sweet odor of affected infants’ urine.
Yang Li, Xia Liu, C. Duan, Xiu-feng Song, Xun-hui Zhuang   +4 more
semanticscholar   +1 more source

Maple Syrup Urine Disease and Cerebral Edema

Pediatric Neurology Briefs, 1991
Cerebral edema causing death in four children with maple syrup urine disease (MSUD) is reported from St.
J Gordon Millichap
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

Oral health status of children and young adults with maple syrup urine disease in Turkey

BMC Oral Health, 2021
Background Maple syrup urine disease (MSUD) is an inherited disorder clinically characterized by ketoacidosis, seizures, coma, psychomotor delay, and intellectual disability.
E. Ballıkaya, Yılmaz Yıldız, Nagihan Koç, A. Tokatlı, M. Uzamış Tekçiçek, H. Sivri   +5 more
semanticscholar   +1 more source