Vitamin B12-unresponsive methylmalonic acidemia type mut-

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Vitamin B12-unresponsive methylmalonic acidemia type mut-?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.