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

Genetics

• autosomal recessive
• associated with defects in MTRR gene

Clinical manifestations

• developmental delay

Laboratory

• megaloblastic anemia (bone marrow biopsy, CBC)
• hypomethioninemia
• hyperhomocysteinemia

More general terms

• methylcobalamin deficiency

Additional terms

• methylcobalamin (vitamin B12)

Database

• OMIM: https://mirror.omim.org/entry/236270