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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Williams, D., Atkin, C., Frens, D. et al. Menkes' Kinky Hair Syndrome: Studies of Copper Metabolism and Long Term Copper Therapy. Pediatr Res 11, 823–826 (1977). https://doi.org/10.1203/00006450-197707000-00009
Issue Date:
DOI: https://doi.org/10.1203/00006450-197707000-00009
Keywords
This article is cited by
-
Menkes-Syndrom
Monatsschrift Kinderheilkunde (2005)
-
Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome
Pediatric and Developmental Pathology (1998)
-
Clinical and biochemical consequences of copper-histidine therapy in Menkes disease
European Journal of Pediatrics (1993)
-
Menkes' disease: long-term treatment with copper and D-penicillamine
European Journal of Pediatrics (1988)