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Vitamin B12-unresponsive methylmalonic acidemia type mut-

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Vitamin B12-unresponsive methylmalonic acidemia type mut- 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:0019267 Orphanet:79312
Part of
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Also known as
partial deficiency of methylmalonyl-CoA mutase · vitamin B12-unresponsive methylmalonic aciduria type mut-

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