Vitamin B12-responsive methylmalonic acidemia

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Vitamin B12-responsive methylmalonic acidemia?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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Clinical Trials

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