formiminoglutamic aciduria
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
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