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Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency
A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that is caused by mutation in the MUT gene on chromosome 6p12.3.
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When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
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Overview
A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that is caused by mutation in the MUT gene on chromosome 6p12.3.
Resources
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