methylmalonic aciduria and homocystinuria type cblG

Term ID

DOID:0050733

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 MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (2)

References

Ontology

Human Disease   ( DOID:0050733 )