Vitamin B12-unresponsive methylmalonic acidemia type mut-
Synonyms: Partial deficiency of methylmalonyl-CoA mutase | Vitamin B12-unresponsive methylmalonic aciduria type mut-
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Vitamin B12-unresponsive methylmalonic acidemia type mut-?
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