Reactome: A Curated Pathway Database

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG (R-HSA-3359469)

Species Homo sapiens

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).

Locations in the PathwayBrowser
Cross References
Database Identifier
BioModels Database BIOMD0000000018
Diseases
Name Identifier Synonyms
methylmalonic aciduria and homocystinuria type cblG 0050733