methylmalonic aciduria and homocystinuria type cblE

Term ID

DOID:0050732

Synonyms

Definition

A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (2)

References

Ontology

Human Disease   ( DOID:0050732 )