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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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
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature:Strategies for optimization [PDF]
JIMD Reports, 2020 Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hours ...
Boelen, Anita +17 more
core +2 more sources
JIMD Reports, 2021 Maple syrup urine disease (MSUD) is a rare inborn metabolic disorder, managed with a strict protein‐restricted diet. At any time or age patients may still experience metabolic decompensations, requiring administration of branched chain amino acid (BCAA ...
Pascale de Lonlay +14 more
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Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease [PDF]
, 2019 We present a one-year-old girl with maple syrup urine disease with dermatitis secondary to the restriction of amino acids as part of the treatment.
Campuzano-García, Andrés Eduardo +1 more
core +3 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
doaj +2 more sources
CRRT: trattamento della crisi metabolica grave nella maple syrup urine disease
Giornale di Clinica Nefrologia e Dialisi, 2018 non ...
Pasquale Fatuzzo +4 more
doaj +4 more sources
Studies in Maple Syrup Urine Disease [PDF]
Archives of Disease in Childhood, 1961 C. E. Dent, R. G. Westall
openalex +5 more sources
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Orphanet Journal of Rare Diseases, 2020 Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Ana Vitoria Barban Margutti +17 more
doaj +2 more sources
CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
doaj +3 more sources