Results 1 to 10 of about 2,974 (143)
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
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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 +3 more
openaire +4 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
+7 more sources
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 +4 more
doaj +1 more source