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Maple syrup urine disease Amnah Mahroo

Maple syrup urine disease Amnah Mahroo. Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup. Maple syrup urine disease  (MSUD).

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Maple syrup urine disease Amnah Mahroo

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  1. Maple syrup urine diseaseAmnahMahroo Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup.

  2. Maple syrup urine disease (MSUD) a metabolic disorder of branched chain amino acids • caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC) • Accumulation of • leucine • Isoleucine and • valine in the blood and urine

  3. Genetic prevalence Maple syrup urine disease affects approximately 1 out of 180,000 infants autosomalrecessive disorder four genes produce proteins that work together as the (BCKDC) complex BCKDHA BCKDHB DBT DLD

  4. Diagnosis and Symptoms presence of sweet-smelling urine and earwax poor appetite weak suck weight loss high pitched cry Vomiting If not treated, other symptoms can follow:  swelling of the brain seizures metabolic acidosis mental retardation or spasticity coma, sometimes leading to death

  5. Signs and tests • Plasma amino acid test • Urine amino acid test • Newborn screening tests • Inborn errors of metabolism

  6. TREATMENT FOR MSUD Aprotein-free diet A special medical formula as a substitute for milk Fluids, sugars and fats are given through a vein (IV) Diet low in branched-chain amino acids Thiamine Supplements Tracking BCAA levels Dialysis Liver transplantation http://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html

  7. Prevention Genetic counseling Genetic testing (DNA testing) Carrier testing

  8. References The MSUD Family Support Grouphttp://www.msud-support.org/ CLIMB (Children Living with Inherited Metabolic Disorders)http://www.climb.org.uk Genetic Alliancehttp://www.geneticalliance.org/ http://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001411/ http://en.wikipedia.org/wiki/Maple_syrup_urine_disease http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm http://emedicine.medscape.com/article/946234-overview#a0104 http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001411/

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