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Maple Syrup Urine Disease Learning Center

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Welcome

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 ...

Basic Info

Causes
Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the branc...
Tests
Plasma amino acid testUrine amino acid testThere will be signs of ketosis and excess acid in blood (acidosis).
Treatments
When the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars,...
Drugs
  • Dianeal Low Calcium with 1.5% Dextrose
  • Normosol-R and 5% Dextrose
  • Liposyn II
Prevention
Genetic counseling is suggested for people who want to have children and who have a family history of maple syrup uri...
Doctor Specialties
Call your health care provider if you have a family history of MSUD and are planning to start a family. Also call imm...

Basic Info

Related Topics

Genetic Disorders

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