formiminoglutamic aciduria
Arakawa syndrome 1
related
FTCD deficiency
exact
Formiminoglutamicaciduria (FIGLU-Uria)
related
formiminoglutamic acidemia
related
formiminoglutamic aciduria
exact
formiminotransferase cyclodeaminase deficiency
exact
formiminotransferase deficiency syndrome
related
glutamate formiminotransferase deficiency
exact
Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.
MONDO:0001700
megaloblastic anemia
is_a
MONDO:0016624
hereditary anemia
is_a
MONDO:0017313
disorder of folate metabolism and transport
is_a