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Maple syrup urine disease type 1A

MONDO:0023691

A maple syrup urine disease caused by mutations in BCKDHA.

Also known as: maple syrup urine disease type 1A, maple syrup urine disease, type IA, MSUD type 1A

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

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Part of

↑ Maple syrup urine disease (4)

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

Not yet finished but already full! 1

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