Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type). Because no universal consensus was made on whether <italic>mut</italic>-type methylmalonic acidemia should be included in newborn screening (NBS), we aimed to compare the outcome of this disorde...

Topics

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• Amino Acid Metabolism, Inborn Errors
• China
• Infant, Newborn
• Methylmalonyl-CoA Mutase
• Neonatal Screening
• Prognosis
• Treatment Outcome
• Vitamin B 12

Identifiers and source

Literature Corpus work

8e739fd6-391b-528b-89a0-a7d2f29746b8

DOI

10.21203/rs.3.rs-3638398/v1