Good clinical outcomes can be expected if management is initiated early. Normally, the body breaks down proteins from food into amino acids. It has its name because people with this condition produce urine that smells sweet. If left untreated, irreversible neurological damage and metabolic catastrophe ensue. Maple syrup urine disease (MSUD) is a subtype of organic acidemia, and is a disorder in which the body cannot break down certain parts of proteins. The underlying defect in the BCKAD complex disrupts the metabolism of branched-chain amino acids, which leads to an accumulation of branched-chain amino acids (BCAAs) in the plasma and their respective branched-chain ketoacids in the urine. It classically manifests in the neonatal period with failure to thrive, delayed developmental milestones, feeding difficulties, and a maple syrup odor in the urine or cerumen. Treatment consists of close metabolic monitoring and dietary restriction of branched-chain amino acids. This complex is responsible for the breakdown of branched-chain amino acids: Leucine. Health Literacy Online: A Guide for Simplifying the User Experience.Maple syrup urine disease (MSUD) was first described as a rapid onset of Menkes' neurodegenerative disease in 1954. It is a defect of metabolism due to abnormal activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. Design and methods: Plasma samples from treated MSUD patients were used to evaluate the biochemical profile and oxidative stress parameters. Washington, DC: The National Academies Press. Objective: The objective of this study was to evaluate and correlate the biochemical and oxidative stress profiles in MSUD patients during the dietary treatment. National Academies of Sciences, Engineering, and Medicine. Improving newborn screening laboratory test ordering and result reporting using health information exchange. Reference: Data from the Newborn Screening Coding and Terminology Guide is available here.Reference: MedGen Data Downloads and FTPĭata from the National Library of Medicine's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing.Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.ĭata from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease. Orphanet is an online database of rare diseases and orphan drugs. Reference: Access aggregated data from Orphanet at Orphadata.Reference: UMLS Vocabulary Standards and Mappings Downloadsĭata from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. To make informed health care decisions at every stage of your journey, it is important to know what care options are available, and where to find reliable resources. For example, you may consider exploring alternative types of care alongside traditional medicine, or you may be interested in connecting with patient-centered organizations that focus on enhancing health care quality. As you navigate supplemental care options, it is important you make informed health care decisions to ensure you receive the care you want and need. Here, find resources to connect you with practical, financial, and emotional support during this process.Īs you navigate supplemental care options, it is important you make informed health care decisions to ensure you receive the care you want and need. GARD recognizes coping with a rare disease diagnosis is a continual process and your needs may change over time. Navigating unexpected challenges, coordinating care, and handling financial concerns may feel overwhelming. As you and your caregivers adjust to a rare disease diagnosis, it is normal to be flooded with a wide range of emotions. Here, find resources to connect you with practical, financial, and emotional support during this process.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |