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
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Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination
JCRPE, 2023 Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage.
Azza AL Shidhani +7 more
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Mothers' Knowledge and Practices Regarding Care of their children Suffering from Maple Syrup Urine Disease. [PDF]
Helwan International Journal for Nursing Research and PracticeMaple 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
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Maple syrup urine disease decompensation misdiagnosed as a psychotic event
Molecular Genetics and Metabolism Reports, 2022 Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine.
Tomoyasu Higashimoto +4 more
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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 ReportsChika Takano +3 more
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Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease [PDF]
Annals of Indian Academy of NeurologyHui Zhu, Yi Zhong, Shuyao Zhu
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MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases [PDF]
, 2017 PURPOSE:We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD).METHODS:This retrospective study consisted of 10 MSUD patients confirmed by genetic testing.
Ailan Cheng +6 more
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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 +5 more
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Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Molecular Genetics and Metabolism Reports, 2021 Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids ...
Laura Guilder +8 more
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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
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