methylcobalamin deficiency type G; homocystinuria-megaloblastic anemia complementation type G

Genetics

• autosomal recessive
• associated with defects in MTR gene

Clinical manifestations

• mental retardation

Laboratory

• macrocytic anemia
• homocystinuria

More general terms

• methylcobalamin deficiency

More specific terms

• methylcobalamin deficiency type E; vitamin B12-responsive homocystinuria; homocystinuria-megaloblastic anemia complementation type E

Additional terms

• methylcobalamin (vitamin B12)

Database

• OMIM: https://mirror.omim.org/entry/250940