Link: https://en.m.wikipedia.org/wiki/Maple_syrup_urine_disease
Description: WebMaple syrup urine disease ( MSUD) is an autosomal recessive [1] metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. [2] . The condition gets its name from the distinctive sweet odor of affected infants' urine and earwax, particularly prior to diagnosis and during times of acute illness. [3] .
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Link: https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease
Description: WebSep 25, 2023 · Overview. What is maple syrup urine disease (MSUD)? 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.
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Link: https://rarediseases.org/rare-diseases/maple-syrup-urine-disease/
Description: 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.
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Link: https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud
Description: WebMaple syrup urine disease is a rare inherited disorder caused by the body’s inability to properly process amino acids, leading to a characteristic odor of maple syrup in the baby's urine. If not diagnosed and treated soon after birth, maple syrup urine disease (MSUD) can be life threatening – as early as the first two weeks of life.
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Link: https://www.webmd.com/a-to-z-guides/what-is-maple-syrup-urine-disease
Description: WebFeb 25, 2024 · 4 min read. Maple syrup urine disease (MSUD), or maple syrup syndrome, is a type of metabolic disorderthat affects the way your body converts food into energy. People with MSUD...
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Link: https://www.ncbi.nlm.nih.gov/books/NBK557773/
Description: WebSep 5, 2022 · Maple syrup urine disease (MSUD) was first described as a rapid onset of Menkes' neurodegenerative disease in 1954. [1] . It is a defect of metabolism due to abnormal activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. This complex is responsible for the breakdown of branched-chain amino acids: Leucine. Isoleucine. Valine.
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Link: https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease/
Description: 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 the classic or …
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Link: https://www.uptodate.com/contents/overview-of-maple-syrup-urine-disease
Description: WebMar 30, 2023 · Deputy Editor: Elizabeth TePas, MD, MS. Literature review current through: Jan 2024. This topic last updated: Mar 30, 2023. INTRODUCTION. Maple syrup urine disease (MSUD; MIM #248600) also known as branched-chain ketoaciduria, is a disorder affecting the aliphatic or branched-chain amino acids (BCAAs).
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Link: https://www.ncbi.nlm.nih.gov/books/NBK1319/
Description: 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.
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Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593394/
Description: 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.
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