MAPLE SYRUP URINE DISEASE

WHAT IS MAPLE SYRUP URINE DISEASE?

• Potential deadly disorder that affects the way the body breaks down 3 amino acids:
• Leucine
• Isoleucine
• Valine

HOW DO YOU GET THE DISEASE

• You must inherit a defective copy of the gene from each parent

HOW IS THE DISEASE SPREAD

• It is spread through parents genes

WHAT ARE THE SIGNS AND SYMPTOMS

• Loss of appetite

SIGNS AND SYMPTOMS CONTINUED

• Fussiness

SIGNS AND SYMPTOMS CONTINUED

• Sweet-smelling urine

HOW IS THE DISEASE DIAGNOSED

• They take a blood sample from the baby's heel
• Analyze it for high leucine levels

HOW TO PREVENT THE DISEASE

• Dietary restrictions of the amino acids:
• Leucine
• Isoleucine
• Valine

HOW TO TREAT THE DISEASE

• Gene therapy is a potential future treatment which would involve replacing the mutated gene with a good copy

HOW COMMON IS IT