Definition

A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3.

Synonyms

Arakawa syndrome 1
FIGLU-uria

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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glutamate formiminotransferase deficiency

glutamate formiminotransferase deficiency

Associated Genes

Associated Alleles

Associated Models