Formiminoglutamic aciduria

Orpha code: 51208OMIM code: 229100

Definition

A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.

Disease data
Classification

Disease

Synonyms
FTCD deficiency
Glutamate formiminotransferase deficiency
Niedobór cyklodeaminazy formiminotransferazy
Niedobór FTCD
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency
ORPHA code
51208
OMIM code
229100
ICD10 code
E70.8
ICD11 code
-

No additional description.

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