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
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
Outcome of maple syrup urine disease. [PDF]
Archives of Disease in Childhood, 1982 The outcome of 12 children with classical maple syrup urine disease is reviewed. All patients presented in the neonatal period at ages varying from 5 to 21 (median 8) days. The time taken to make the diagnosis ranged from 1 day to longer than 9 months (median 7 days).
E. R. Naughten +3 more
openalex +4 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
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning [PDF]
International Journal of Neonatal Screening, 2021 Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency.
Mona Sajeev +11 more
openalex +2 more sources
Maple Syrup Urine Disease in a Central Indiana Hereford Herd [PDF]
Case Reports in Veterinary Medicine, 2015 Maple syrup urine disease (MSUD) and further cases were identified in herd mates of a small Hereford herd in Indiana based on history, clinical signs, microscopic lesions, and biochemical and genetic testing.
Mark E. Robarge +4 more
doaj +2 more sources
Gene Preference in Maple Syrup Urine Disease [PDF]
The American Journal of Human Genetics, 2001 Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and often leads to neonatal death. Newborn-screening programs, coupled with the use of protein-modified diets, have minimized the severity of this phenotype and allowed affected individuals to develop into productive adults.
Mary M. Nellis, Dean J. Danner
openalex +5 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
doaj +2 more sources
Family with intermittent maple syrup urine disease [PDF]
Archives of Disease in Childhood, 1973 A family is described in which the 3 children presented with episodes of severe metabolic acidosis secondary to minor infections. 2 of them died, and 1 of these was severely retarded. The sole surviving child is 6 years old and is normal with respect to physical and mental development.
H B Valman +4 more
openalex +5 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