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Related websites
Maple Syrup Urine Disease - Cleveland Clinic
WEBSep 25, 2023 · maple syrup urine disease (MSUD) is a lifelong and potentially life-threatening inherited metabolic disorder. Metabolic disorders cause problems with how your body breaks down food into the tiny components it uses for energy.
My.clevelandclinic.orgMaple syrup urine disease - Wikipedia
WEBmaple syrup urine disease (MSUD) is a rare, inherited metabolic disorder that affects the body’s ability to metabolize amino acids due to a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. [3]
En.wikipedia.orgMaple Syrup Urine Disease - Symptoms, Causes, Treatment
WEBJun 5, 2020 · maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of an enzyme complex (branched-chain alpha-keto acid dehydrogenase) that is required to break down (metabolize) the three branched-chain amino acids (BCAAs) leucine, isoleucine and valine, in the body.
Rarediseases.orgMaple syrup urine disease | About the Disease | GARD - Genetic …
WEBmaple syrup urine disease (MSUD) occurs when the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage. There are several forms of MSUD. The most common is …
Rarediseases.info.nih.govMaple Syrup Urine Disease - StatPearls - NCBI Bookshelf
WEBMar 3, 2024 · maple syrup urine disease (MSUD) is a defect of amino acid metabolism due to abnormal activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. This complex is responsible for breaking down the 3 essential branched-chain amino acids (BCAA): isoleucine, leucine, and valine.
Ncbi.nlm.nih.govMaple Syrup Urine Disease: What You Need to Know - WebMD
WEBFeb 25, 2024 · Learn about the causes, types, and symptoms of maple syrup urine disease, as well as how it is diagnosed and treated.
Webmd.comMaple syrup urine disease - MedlinePlus
WEBmaple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine.
Medlineplus.govMaple syrup urine disease: mechanisms and management
WEBSep 6, 2017 · maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive disease characterized by disruption of the normal activity of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex, the second step in the catabolic pathway for the branched-chain amino acids (BCAAs) that include leucine, isoleucine, and valine.
Ncbi.nlm.nih.govMaple syrup urine disease - NHS
WEBmaple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body cannot process certain amino acids (the "building blocks" of protein), causing a harmful build-up of substances in the blood and urine.
Nhs.ukMaple Syrup Urine Disease - GeneReviews® - NCBI Bookshelf
WEBJan 30, 2006 · maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born asymptomatic but without treatment follow a predictable course: 12–24 hours.
Ncbi.nlm.nih.gov