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what are the two types of methylmalonic acidemia(aciduria)?
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Answer Posted / shivani
MMA is caused by 3 main reasons -
1. functional impairment of enzyme methylmalonyl CoA mutase
[MCM] requiring Vitamin B12 as cofactor; which may be due
to mutations in MUT gene which codes the enzyme
2. mutations in genes reqiured for VitB12 processing &
transport
3. dietary deficiency of VitB12.
So depending on the cause there two major types of
methylmalonic aciduria [MMA]
1. Vitamin B12 responsive - the early [neonatal] onset &
severe type
2. Vitamin B12 - non responsive - the late onset & mild type
depending on the patient's response to VitB12 therapy.
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