Term Name: | methylmalonic aciduria and homocystinuria type cblG |
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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. |
Ontology: | Human Disease [DOID:0050733] ( DOID:0050733 ) |