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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Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease. [PDF]
J Inherit Metab DisMaple syrup urine disease (MSUD) is a rare inherited metabolic disorder char-acterized by deficient activity of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, required to metabolize the amino acids leucine, isoleucine, and valine ...
Tejedor JR +12 more
europepmc +4 more sources
Menkes Maple Syrup Urine Disease: Treatment
Pediatric Neurology Briefs, 1991 Five patients with maple syrup urine disease were treated intra-venously with branched-chain amino acid-free solution of amino acids during nine episodes of acute illness and are reported from the Children’s Hospital of Philadelphia, PA.
J Gordon Millichap
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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
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
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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
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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
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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
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
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