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...
Tests
Plasma amino acid test; Urine amino acid test. There 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, and...
Drugs
- Dextrose 5% and 0.3% Sodium Chloride
- Dextrose 5% and 0.225% Sodium Chloride
- Sodium Chloride 0.45%, Intravenous
Prevention
Genetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine...
Doctor Specialties
Call your health care provider if you have a family history of MSUD and are planning to start a family. Also call...
Basic Info