MSUD

Maple syrup disease is inherited when body cannot break down proteins or amino acids.
And its generally affect in blood.

AFFECTS

• Death
• Coma
• Poor feeding
• Seizures
• Lethargy
• Smells like syrup

CASUES

• Leucine, isoleucine, and valine
• Mutation that change 3 differences genes

INHERITED

• Sex-linked from both parents
• Recessive

TREATMENTS

• Eating diet
• Should eat low level of amino acids

DIAGNOSED

• Plasma amino acid test
• Urine organism acid test
• Genetic testing
• Molecular genetic testing

Genetic counseling is an option

Untitled Slide

• More common with a baby
• 180,000 only 1 kid

WHAT HAVE I LEARNED????

• I have learned that MSUD make us smells like syrup...