| Disease ID | Source | Name | Description |
| 229100 | OMIM | Glutamate formiminotransferase deficiency (FIGLU-URIA) | Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities. The disease is caused by variants affecting the gene represented in this entry. |