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Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF

Stable Identifier
R-HSA-3359458
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

Defects in LMBRD1 cause methylmalonic aciduria and homocystinuria type cblF (MMAHCF; MIM:277380), characterised biochemically by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MetCbl) (Rutsch et al. 2009, Gailus et al. 2010).

Participants
Participant Of
Disease
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblF 0050717 Cobalamin F deficiency