Vitamin B12-unresponsive methylmalonic acidemia type mut0

Get in touch with RARE Concierge.

Contact RARE Concierge

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Synonyms: Complete deficiency of methylmalonyl-CoA mutase | Vitamin B12-unresponsive methylmalonic aciduria type mut0

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.

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 March 2024

Newly diagnosed with
Vitamin B12-unresponsive methylmalonic acidemia type mut0?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

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