Term Name: methylmalonic aciduria and homocystinuria type cblE
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.
Ontology: Human Disease [DOID:0050732]   ( DOID:0050732 )

Relationships
is a type of: methylmalonic acidemia