Maple syrup urine disease type 1B

MONDO:0023692

A maple syrup urine disease caused by mutations in BCKDHB.

Also known as: maple syrup urine disease type 1B, MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex, MSUD type 3 (formerly), MSUD type IB

1 clinical trial for this condition and its sub-types, 1 tagged with Maple syrup urine disease type 1B itself.

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Including sub-types (1) Tagged with Maple syrup urine disease type 1B (1)

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Maple syrup urine disease type 1B

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth