Abstract
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.