Hypocupremic Infant Associated with Mental Retardation and Hepatic Cirrhosis: Probably a Copper Malabsorption Syndrome

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  • Yoshida Toshio
    Department of Pediatrics, Faculty of Medicine, Tohoku University
  • Konno Tasuke
    Department of Pediatrics, Faculty of Medicine, Tohoku University
  • Arakawa Tsuneo
    Department of Pediatrics, Faculty of Medicine, Tohoku University

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The case of a 3-month-old girl was described who was characterized by a clinical picture consisting of mental retardation, abnormalities in PEG and EEG, and portal cirrhosis of the liver, and by biochemical findings of hypocupremia not associated with hypoproteinemia and hypoferremia. A defective absorption of copper from the gastrointestinal tract was suggested to be of primary importance in the etiology of this syndrome.

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