Reactome: A Curated Pathway Database

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF (R-HSA-3359458)

Species Homo sapiens

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).

Locations in the PathwayBrowser
Diseases
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblF 0050717 [Cobalamin F deficiency]