A few related disorders similar to MSUD may help doctors not only diagnose but understand the disorder. Methylmalonic acidemia, MMA, is caused by mutations in five genes that prevent the body from metabolizing methionine, valine, isoleucine, and threonine. Developmental delay and failure to thrive are some initial symptoms. Propionic acidemia, PA, is caused by a deficiency of the propionyl CoA carboxylase enzyme used to break down amino acids. It can result poor nutrition and seizures within the first weeks of birth. Both disorders require dietary restrictions and medication, depending on the severity.

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