Maple Syrup Urine Disease

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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.org


    Maple 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.org


    Maple 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.org


    Maple 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.gov


    Maple 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.gov


    Maple 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.com


    Maple 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.gov


    Maple 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.gov


    Maple 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.uk


    Maple 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


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