Disease

Maple syrup urine disease, type Ib1

Gene

BCKDHB

Inheritance AR
Current Treatments dietary management, thiamine
Evidence for Treatment guideline2, 3
Non-Molecular Testing Availability yes
Non-Molecular Test serum amino acids, urine organic acids1
Disease Frequency (per 100,000) 0.714
Genes Included in Disease Frequency DBT, BCKDHA, BCKDHB
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Maple+Syrup+Urine+Disease&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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