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formiminoglutamicaciduria; glutamate formiminotransferase deficiency
Genetics:
1) autosomal recessive
2) associated with defects in FTCD gene
Clinical manifestations:
1) in severe phenotype
- megaloblastic anemia
- mental retardation
2) in mild phenotype
- mild developmental delay
- no hematological abnormalities
Laboratory:
- elevated levels of formiminoglutamate in urine with or without administration of histidine, depending on phenotype
General
amino acid inborn error of metabolism
Database Correlations
OMIM 229100
References
OMIM :accession 229100