Vitamin B12-responsive methylmalonic acidemia
Synonyms: Adenosylcobalamin deficiency | Vitamin B12-responsive methylmalonic aciduria
An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting dehydration hypotonia and intellectual deficit which responds to vitamin B12. There are three types: cblA cblB and cblD-variant 2 (cblDv2).
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 October 2023.
Newly diagnosed with
Vitamin B12-responsive methylmalonic acidemia?
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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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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