Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
Clinical Case Reports, 2018 Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required.
Wenjie Li +9 more
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Health Science ReportsBackground and Aim Maple Syrup Urine Disease (MSUD) is a metabolic disorder affecting branched‐chain amino acid metabolism. While neurological symptoms are well‐characterized, cutaneous manifestations such as acrodermatitis dysmetabolica (AD) caused by ...
Bahareh Abtahi‐naeini +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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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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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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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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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
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Pregnancy in an adolescent with maple syrup urine disease: Case report
Molecular Genetics and Metabolism Reports, 2021 Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive metabolic disorder that results in elevation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine.
Michelle E. Abadingo +3 more
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A Case of Maple Syrup Urine Disease Diagnosed in Adulthood
Annals of Internal Medicine: Clinical Cases, 2022 Classic maple syrup urine disease (MSUD) is typically diagnosed in newborns, whereas nonclassic forms may manifest at any age. We describe a 58-year-old man presenting with recurrent encephalopathy, found with a nonclassic form of MSUD. This patient case
Janaki D. Vakharia +2 more
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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
Nature Communications, 2022 Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain.
Clément Pontoizeau +15 more
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