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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).

Participants
Participant Of
Disease