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Arakawa's syndrome I

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A formiminotransferase deficiency syndrome, characterized by mental and physical retardation and cerebral defects. Brain disorder include atrophy of the cerebral cortex, dilation of the cerebral ventricles, and abnormal EEG.

An inborn disturbance of the folic acid metabolism, increased urinary formiminoglutamatic acid levels, and probable defect of cyclodeaminase are the additional biochemical features. Haematological changes include megaloblastic and normocytic anaemias and hyper-segmented neutrophils. The syndrome is familial and is transmitted as an autosomal recessive trait


  • T. Arakawa et al:
    Formiminotransferase- deficiency syndrome: A new inborn error of folic acid metabolism.
    Ann Paediat, 1965, 205: 1–11.
  • T. Arakawa et al:
    Erythrocyte formiminotransferase activity in formiminotransferase deficiency syndrome.
    Tohoku Journal of Experimental Medicine, Sendai, 1966, 88: 195–202.
  • T. Arakawa et al:
    Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid.
    Tohoku Journal of Experimental Medicine, Sendai, 1968, 94: 3–16
  • T. Arakawa, et al:
    Familial occurrence of formiminotransferase deficiency syndrome.
    Tohoku Journal of Experimental Medicine, Sendai, 1968, 96: 211-217.

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