What is MSUD?
Severe disorder of leucine, isoleucine and valine metabolism.
Symptoms
Sweet-smelling urine, seizures, neonatal encephalopathy.
Genetic causes
Mutations in BCKDHA, BCKDHB, DBT or DLD.
Inheritance pattern
Autosomal recessive.
Important genes
BCKDHA, BCKDHB, DBT.
Who should be tested?
Suspected neonates and affected families.
Recommended tests
Gene sequencing and carrier screening.
Counseling
PGT-M and metabolic follow-up.