The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screening

Abstract excerpt

<h4>Background: </h4> : Isolated methylmalonic acidemia (MMA), an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type MMA). Because no universal consensus was made on whether mut-type MMA should be included in newborn screening (NBS), we aimed to compare the outcome of this disorder detected by NBS with that detected clinically and in...

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

e5d27da6-a2e7-59ec-9b23-0156fe17703e

DOI

10.22541/au.165633312.28431992/v1