Maple Syrup Urine Disease - PowerPoint PPT Presentation

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Maple Syrup Urine Disease

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Leucine, isoleucine, valine. Products build up, as well as their toxic by-products in blood and urine ... Isoleucine. Children: 3 to 15. Adults: 4 to 23. Plasma ... – PowerPoint PPT presentation

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Title: Maple Syrup Urine Disease


1
Maple Syrup Urine Disease
  • Advanced Biochemistry 2009

2
Background
  • Inherited disease
  • Occurs in infants within the first few days of
    birth
  • Results in mental retardation/death
  • Varying forms
  • 1 in 185,000 infants
  • Much higher prevalence in Amish

3
What is MSUD?
  • Urine has burning sugar/maple syrup odor
  • Symptoms
  • Vomiting, dehydration, lethargy, seizures,
    pancreatis
  • Unable to process amino acids
  • Leucine, isoleucine, valine
  • Products build up, as well as their toxic
    by-products in blood and urine
  • -If untreated, will lead to death, coma,
    neurological decline

4
What genes are affected?
  • BCKDHA (chr 19)
  • Branched chain ketoacid
  • dehydrogenase
  • BCKDHB (chr 6)
  • DBT (chr 1)
  • DLT (chr 7)
  • All work to create proteins for complex
  • Autosomal recessive

5
(No Transcript)
6
Testing
  • Urine amino acid test
  • Valine
  • Children 17 to 37
  • Adults 19 to 74
  • Leucine
  • Children 9 to 23
  • Adults 20 to 77
  • Isoleucine
  • Children 3 to 15
  • Adults 4 to 23
  • Plasma amino acid test
  • Chromatography
  • Baby should not eat for 4 hours before
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