Results 41 to 50 of about 5,966 (238)

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

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

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 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

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

Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy

Pediatrics and Neonatology, 2016
Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine).
Jia-Woei Hou
doaj   +1 more source

Nutrient management in the intrapartum period in maternal maple syrup urine disease

Molecular Genetics and Metabolism Reports, 2021
Women with congenital amino acid disorders, including maple syrup urine disease (MSUD), are at risk of metabolic crisis at delivery. There are still only a few case reports of maternal MSUD globally, and we are the first to report the successful ...
Chika Takano, Mika Ishige, Erika Ogawa, Nobuhiko Nagano, Tamaki Morohashi, Aya Okahashi, Kaori Kawakami, Atsushi Komatsu, Kei Kawana, Tatsuhiko Urakami, Ichiro Morioka   +10 more
doaj   +1 more source

Phenylbutyrate therapy for maple syrup urine disease [PDF]

Human Molecular Genetics, 2010
Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate in urea cycle disorder patients has been associated with a selective reduction in branched-chain amino acids (BCAA) in spite of adequate dietary protein intake. Based on this clinical observation, we investigated the potential of phenylbutyrate treatment to lower BCAA and their ...
BRUNETTI PIERRI, NICOLA, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B.   +13 more
openaire   +4 more sources

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Molecular Genetics and Metabolism Reports, 2018
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid ...
Ernie Zuraida Ali, Lock-Hock Ngu
doaj   +1 more source

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

JIMD Reports, 2020
Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hours, referral ...
Kevin Stroek, A. Boelen, M. Bouva, M. G. M. de Sain-van der Velden, P. Schielen, Rose E. Maase, H. Engel, B. Jakobs, L. Kluijtmans, M. Mulder, M. Rubio-Gozalbo, F. V. van Spronsen, G. Visser, M. D. De Vries, Monique Williams, A. Heijboer, E. A. Kemper, A. Bosch   +17 more
semanticscholar   +1 more source