Answer / 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.

Answer / swapna

Methylmalonic acidemia (MMA, also known as "methylmalonic
aciduria") is an inborn error of intermediary metabolism
that may present in the early neonatal period with
progressive encephalopathy and death due to a secondary
hyperammonemia.


Methylmalonic acidemia is an inherited disorder in which
the body is unable to process certain proteins and fats
(lipids) properly. Methylmalonic acidemia is a disorder of
amino acid metabolism, involving a defect in the conversion
of methylmalonyl-coenzyme A (CoA) to succinyl-CoA.

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