01 September 2011

Maple syrup urine disease Presentations



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) is caused by a gene defect. Persons with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.

In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time).

Some types of MSUD are mild or come and go. Even in the mildest form, repeated periods of physical stress can cause mental retardation and high levels of leucine.

Metabolism
by Eric Niederhoffer
http://www.siumed.edu/~eniederhoffer/som_pbl/SSB/powerpoint/metabolism%20in%20muscle_nerves.ppt

Newborn Screening in Washington
by Cristine M Trahms, MS, RD, FADA
http://courses.washington.edu/nutr526/lectures/NBS_05.ppt

Clinical Chemistry Amino Acids & Proteins
by Keri Brophy-Martinez
http://www.austincc.edu/mlt/chem/proteins_overview_2011_STUDENT.ppt

Urinalysis
http://www.austincc.edu/mlt/ua/uaUrinalyisisReview.ppt

Infant Nutrition: Conditions & Interventions
http://www.cwu.edu/~bergmane/nutr545/Powerpoint/Infant%20Nutrition(ch9%20brown).ppt
Genetic Testing
http://flightline.highline.edu/gbarclay/bio_121/studentpps07/Genetic%20Therapy.ppt

Inborn Errors of Metabolism
by Robert D. Steiner, MD.
http://www.ohsu.edu/xd/health/services/doernbecher/research-education/education/med-education/upload/Inborn-Errors-or-Metabolism.ppt

Amino Acid Oxidation and The Production of Urea
http://a-s.clayton.edu/emintzer/Chem%204203_chapter%2018.ppt

Protein Turnover and Amino Acid Catabolism
http://www.chem.uwec.edu/Chem454_S08/Chapter23.ppt

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