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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
Related
methylcobalamin (vitamin B12)
General
methylcobalamin deficiency
Database Correlations
OMIM 236270
References
OMIM :accession 236270