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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.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Maple syrup urine disease (2) Amino acid metabolism disease (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