PERAWATAN GIGI PADA ANAK DENGAN MAPLE SYRUP URINE DISEASE (LAPORAN KASUS) [PDF]
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
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Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination [PDF]
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
doaj +2 more sources
Maple syrup urine disease decompensation misdiagnosed as a psychotic event [PDF]
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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Pediatric liver transplant for maple syrup urine disease a single center experience [PDF]
Frontiers in PediatricsIntroductionMaple syrup urine disease (MSUD) is an autosomal recessive inborn error of branched-chain amino acid metabolism caused by an inherited deficiency of branched-chain alpha-ketoacid dehydrogenase (BCKDH) activity that degrades isoleucine ...
Ibrahim Hassan +11 more
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Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report [PDF]
Molecular Genetics and Metabolism ReportsMaple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex.
Jariya Upadia +4 more
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Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease [PDF]
Orphanet Journal of Rare DiseasesIntroduction Maple Syrup Urine Disease (MSUD) is a rare metabolic disorder requiring lifelong restriction of branched-chain amino acids (BCAAs), and targeted supplementation with valine and isoleucine to maintain metabolic stability.
Martina Tosi +5 more
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Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study [PDF]
JIMD ReportsThis study aims to determine the factors associated with mortality and neurodevelopmental morbidity in patients with Maple Syrup Urine Disease (MSUD) seen at a tertiary hospital in the Philippines during a 10‐year period.
Christine Mae S. Avila +1 more
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Maple Syrup Urine Disease [PDF]
Global Journal of Pediatrics & Neonatal Care, 2023 Lesczcynski, Mackenzie
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Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine. [PDF]
JIMD RepABSTRACT Maple syrup urine disease (MSUD) is a rare, autosomal recessive metabolic disorder resulting from a deficiency of the branched‐chain α‐ketoacid dehydrogenase complex. This leads to the accumulation of branched‐chain amino acids and their corresponding ketoacids, causing acute metabolic crises and progressive neurological damage if untreated ...
Khalaf-Nazzal R +4 more
europepmc +2 more sources
Maple syrup urine disease [PDF]
The Journal of Pediatrics, 1961 Summary An example of “maple syrup urine”disease was confirmed by amino acid chromatography; its description is accompanied by a summary of the clinical features found in other reported cases. The characteristic pattern is that of an infant who, after thriving for the first few days of life, begins to nurse poorly, develops progressive depression of ...
L, CROME, G, DUTTON, C F, ROSS
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