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Vitamin B12-unresponsive methylmalonic acidemia type mut0

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Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

Identifiers
MONDO:0017360 Orphanet:289916
Part of
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Also known as
complete deficiency of methylmalonyl-CoA mutase · vitamin B12-unresponsive methylmalonic aciduria type mut0

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