Menkes' Kinky Hair Syndrome: Studies of Copper Metabolism and Long Term Copper Therapy

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Abstract
Summary: A patient with Menkes1 kinky hair syndrome was treated with oral CuSO4. Plasma copper, eeruloplasmin, red cell copper, and 24-hr urine copper excretion remained essentially unchanged. Intravenous copper infusion resulted in a rise of serum eeruloplasmin. During administration of a test meal of 64Cu(NO3)2, the patient was given alternately a volume of 0.9% NaCI or an equal volume of plasma intravenously. Radioactivity found in the blood was unchanged after each infusion period. During 427 days of subcutaneous copper, plasma β-phenylenediamine oxidase activity and plasma copper rose toward normal. Subsequent balance studies showed that the patient was in negative copper balance because of large losses in frees. Scanning electron microscopy demonstrated persistent pili torti. Speculation: Menkes' kinky hair syndrome is probably due to a generalized defect in a copper-binding protein that results in increased gastrointestinal copper loss and persistent abnormalities of hair in the copper-replete patient.

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