Defective MMADHC causes MMAHCD

Stable Identifier
R-HSA-3359473
Type
Pathway
Species
Homo sapiens
Synonyms
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective MMADHC causes MMAHCD
Click the image above or here to open this pathway in the Pathway Browser
Defects in MMADHC cause methylmalonic aciduria and homocystinuria type cblD (MMAHCD; MIM:277410), a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) (Coelho et al. 2008).
Literature References
PubMed ID Title Journal Year
18385497 Gene identification for the cblD defect of vitamin B12 metabolism

Coelho, D, Suormala, T, Stucki, M, Lerner-Ellis, JP, Rosenblatt, DS, Newbold, RF, Baumgartner, MR, Fowler, B

N. Engl. J. Med. 2008
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblD DOID:0050716 Cobalamin D deficiency
Cross References
Mondo
Authored
Jassal, B  (2013-05-13)
Reviewed
Watkins, D  (2013-08-14)
Created
Jassal, B  (2013-05-13)
Cite Us!