Reactome: A Curated Pathway Database
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Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD

Stable Identifier
R-HSA-3359473
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

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
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Participant Of
Disease
Diseases
Name Identifier Synonyms