We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients. Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). The disease is typically characterized by neonatal dysplasia, delayed developmental milestones, feeding difficulties, and a maple syrup smell in urine or cerumen 5. Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain -ketoacid dehydrogenase (BCKD) complex. The most common is the classic or infantile form. This leads to the build-up of toxic substances that can cause organ and brain damage. Within certain ethnic groups, for example the Mennonites. Clinical outcomes are generally good in patients where treatment is initiated early. Summary Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. MSUD is known to exist in all races, with an overall incidence of approximately 1/150,000 live births. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. Dietary management enables survival and reduces risk of acute crises. Abstract : Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain -ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, -ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. syrup urine disease (MSUD New YorkMid-Atlantic Consor- tium for Genetic and Newborn Screening Services, 2009). Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances.
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