Reactome: A Curated Pathway Database

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG

Stable Identifier
R-HSA-3359469
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

Defects in MTR cause methylcobalamin deficiency type G (cblG; MIM:250940), an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria (Leclerc et al. 1996, Gulati et al. 1996, Watkins et al. 2002).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
Cross References
BioModels Database