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| Term | glutamate formiminotransferase deficiency | ID (Ontology) | DOID:0111679 (Human Disease) |
| 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. | ||
| Also Known As | "Arakawa syndrome 1" ; "FIGLU-uria" ; "formiminoglutamic acidemia" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal recessive disease__ inherited metabolic disorder | |__vitamin metabolic disorder___| glutamate formiminotransferase deficiency |
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| Is a |
vitamin metabolic disorder autosomal recessive disease |
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External Crossreferences & Linkouts
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GARD:9279 MESH:C537425 MIM:229100 ORDO:51208 SNOMEDCT_US_2023_03_01:59761008 UMLS_CUI:C0268609 |
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