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
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