Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency

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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…

Matched conditions: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency

Get alerted when new Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency trials appear

Newborn screening study aims to catch rare diseases at birth