Identification of gene mutations in six Chinese patients with maple syrup urine disease [PDF]
Frontiers in Genetics, 2023 Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing ...
Lulu Li +11 more
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Maple syrup urine disease: mechanisms and management
The Application of Clinical Genetics, 2017 Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo ...
Blackburn PR +7 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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Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease. [PDF]
J Pediatr, 2021 Ewing CB +11 more
europepmc +4 more sources
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease [PDF]
Pediatrics and Neonatology, 2018 Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are
Bingjuan Han +4 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
doaj +2 more sources
Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease [PDF]
Dermatology Reports, 2023 Acrodermatitis dysmetabolica (AD) describes eruptions characterized by the clinical triad of acral dermatitis, diarrhea, and alopecia. AD can be caused by various metabolic disorders one of which is maple syrup urine disease (MSUD). We present a 2-month-
Fares A. Alkhayal +3 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
Molecular basis of various forms of maple syrup urine disease in Chilean patients
Molecular Genetics & Genomic Medicine, 2021 Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex.
Diana Ruffato Resende Campanholi +12 more
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