Disease

methylmalonic aciduria and homocystinuria type cblE

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.

Synonyms

None

Cross References

Not Available

Parent Terms

methylmalonic acidemia

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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