Definition
MSUD is a metabolic disease characterized by branched-chain amino acid metabolism disorder, maple syrup odor in the urine, and neurological impairment.
Symptoms
- Maple syrup odor in urine
- Neurological disorder
- Vomiting
- Lethargy
Reasons
BCKDHA, BCKDHB, DBT gene mutations.
Diagnosis
Plasma amino acids, genetic testing.
Treatment
Dietary restriction, thiamine.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of metabolic crisis, emergency services should be consulted.
This page is for general information purposes only.