/maple syrup urine disease type 1B

maple syrup urine disease type 1B

Rare Disease

MONDO:0023692

Also Known As

maple syrup urine disease type 1BMSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complexMSUD type 3 (formerly)MSUD type IB

Definition

A maple syrup urine disease caused by mutations in BCKDHB.

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Associated Genes

BCKDHB ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:620698 ↗

GARD

GARD:8597 ↗

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