THE EFFECT OF PROLONGED INTRAVENOUS THERAPY ON COPPER METABOLISM IN TRICHOPOLIODYSTROPHY

Abstract

Recognition of trichopoliodystrophy (TPD, Menkes Disease, Kinky Hair Syndrome) in two patients (3days, 2½mos) permitted the study of the kinetics of Cu metabolism in this disease. I.V. administration of cupric salts in a dosage of 150 mg/kg daily for five days was necessary to achieve normal serum levels. These values were maintained for 5 to 8 days after cessation of therapy. Hepatic Cu levels increased from 14 to 38 ug/g dry wt. and 7 to 45 ug/g dry wt. in the two patients when higher serum levels were obtained. In both patients, the hepatic Cu content remained in the same range with continued therapy. Defective absorption from the gastrointestinal tract was demonstrated by a progressive fall in serum Cu levels from normal values when the older patient received oral Cu acetate 3 mg. per day. Before adequate therapy mitochondria isolated from muscle showed low levels of C¹⁴O₂ production from C¹⁴ pyruvate. After serum values Increased to normal levels, improved oxidation was demonstrated by muscle homogenate. CSF Cu levels were within normal range and increased 2 to 3 fold after I.V. Cu administration. At 7 months of age the younger infant functions at a 5 month level; the older infant has not improved after therapy for 8 months. Our data suggest that neurologic and biochemical dysfunctions of TPD can be altered by early I.V. administration of cupric salts.

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