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This 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. The medical records of patients diagnosed with MSUD seen at Philippine General Hospital (PGH) from 2010 to 2019 were reviewed. Socioeconomic, healthcare, and clinical factors were determined.
View Article and Find Full Text PDFAcute metabolic decompensation after liver transplant in a patient with maple syrup urine disease.
JIMD Rep
January 2025
Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine St. Louis Missouri USA.
Maple syrup urine disease (MSUD) is an inborn error of metabolism characterized by the accumulation of branched-chain amino acids (leucine, isoleucine, and valine) caused by a defect in the branched-chain alpha-keto acid dehydrogenase complex. Liver transplant is an effective therapy for MSUD, and patients can usually tolerate a regular diet after transplant without symptomatic metabolic decompensation. Most post-transplant patients do not follow a sick-day diet.
View Article and Find Full Text PDFPhosphatase activity-based PPM1K: a key player in the regulation of mitochondrial function and its multifaceted impact in diseases.
Mol Cell Biochem
December 2024
Tianjin Medical University General Hospital, 154 Anshan Road, Heping District, Tianjin, 300052, China.
PPM1K is a significant metal-dependent phosphatase predominantly located in the mitochondrial matrix, where it plays a crucial role in the metabolism of branched-chain amino acids (BCAAs). It is implicated in cellular function and development across various tissues and is associated with diseases like Alzheimer's, cardiomyopathy, and maple syrup urine disease (MSUD). This article reviews PPM1K's impact on mitochondrial function and cellular metabolism, as well as its role in disease progression.
View Article and Find Full Text PDFLiving with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease.
Genet Med Open
April 2024
Department of Psychology, University of the Philippines Diliman, Manila, Philippines.
Purpose: Maple syrup urine disease (MSUD) is a common inborn error of metabolism diagnosed in the Philippines. A family may experience stress, anxiety, sorrow, or feelings of helplessness when a child is diagnosed to have a genetic disorder, which can lead to chronic care and disability. This study aims to explore the psychosocial issues experienced by Filipino parents with children having MSUD.
View Article and Find Full Text PDFIntegration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.
J Inherit Metab Dis
January 2025
Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by deficient activity of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, required to metabolize the amino acids leucine, isoleucine, and valine. Despite its profound metabolic implications, the molecular alterations underlying this metabolic impairment had not yet been completely elucidated. We performed a comprehensive multi-omics integration analysis, including genomic, epigenomic, and transcriptomic data from fibroblasts derived from a cohort of MSUD patients and unaffected controls to genetically characterize an MSUD case and to unravel the MSUD pathophysiology.
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