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 smells like maple syrup.

Basic Info

Symptoms
Avoiding food; Coma; Feeding difficulties; Lethargy; Seizures; Urine that smells like maple syrup; Vomiting.
Causes
Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the branch...
Tests
Urine amino acid test; Plasma amino acid test. There will be signs of ketosis and acidosis (excess acid in blood.
Treatments
Treatment involves a protein-free diet. During a flare up, fluids, sugars, and fats are given by IV. Peritoneal dialy...
Drugs
  • Delflex
  • Delflex with 1.5% Dextrose
  • Delflex with 2.5% Dextrose
Complications
Coma; Death; Neurological damage.
Prevention
Genetic counseling is suggested for prospective parents with a family history of maple syrup urine disease. Some stat...
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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