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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
Related
methylcobalamin (vitamin B12)
Specific
methylcobalamin deficiency type E; vitamin B12-responsive homocystinuria; homocystinuria-megaloblastic anemia complementation type E
General
methylcobalamin deficiency
Database Correlations
OMIM 250940
References
OMIM :accession 250940