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Maple Syrup Urine Disease Aliya Deri BIOC118, Winter 2011 Professor Doug Brutlag

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Page 1: Maple Syrup Urine Disease - Stanford University

Maple Syrup Urine DiseaseAliya DeriBIOC118, Winter 2011Professor Doug Brutlag

Page 2: Maple Syrup Urine Disease - Stanford University

Inheritance / Prevalence• Autosomal recessive

• About 1 in 185,000 children

• More common among Mennonites

Page 3: Maple Syrup Urine Disease - Stanford University

The Genotype to Phenotype of MSUD

Page 4: Maple Syrup Urine Disease - Stanford University

The Genotype to Phenotype of MSUD

Page 5: Maple Syrup Urine Disease - Stanford University

The Genotype to Phenotype of MSUD

Page 6: Maple Syrup Urine Disease - Stanford University

The Genotype to Phenotype of MSUD

Page 7: Maple Syrup Urine Disease - Stanford University

The Genotype to Phenotype of MSUD

Page 8: Maple Syrup Urine Disease - Stanford University

The Genotype to Phenotype of MSUD

http://www.ncbi.nlm.nih.gov/books/NBK1319/figure/msud.F5/?report=objectonly

http://www.ncbi.nlm.nih.gov/books/NBK1319/figure/msud.F5/?report=objectonly
Page 9: Maple Syrup Urine Disease - Stanford University

The Genotype to Phenotype of MSUD

Page 10: Maple Syrup Urine Disease - Stanford University

The Genotype to Phenotype of MSUD

Page 11: Maple Syrup Urine Disease - Stanford University

http://www.newbornscreening.info/tools/GraphicsLib.html

http://www.newbornscreening.info/tools/GraphicsLib.html
Page 12: Maple Syrup Urine Disease - Stanford University

Diagnoses since ~1955

Page 13: Maple Syrup Urine Disease - Stanford University

Treatments

Page 14: Maple Syrup Urine Disease - Stanford University

Bibliography

• http://www.ncbi.nlm.nih.gov/books/NBK1319/• http://www.ncbi.nlm.nih.gov/omim/248600• http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease• http://www.msud-support.org/index.php?option=com_content&view=article&id=309&Itemid=90

http://www.ncbi.nlm.nih.gov/books/NBK1319/
http://www.ncbi.nlm.nih.gov/omim/248600
http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease
http://www.msud-support.org/index.php?option=com_content&view=article&id=309&Itemid=90

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