Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy

Pediatric Research
D M WilliamsP F Bray

Abstract

A patient with Menkes' kinky hair syndrome was treated with oral CuSO4. Plasma copper, ceruloplasmin, red cell copper, and 24-hr urine copper excretion remained essentially unchanged. Intravenous copper infusion resulted in a rise of serum ceruloplasmin. During administration of a test meal of 64Cu(NO3)2, the patient was given alternately a volume of 0.9% NaCl 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 p-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 feces. Scanning electron microscopy demonstrated persistent pili torti.

Citations

Aug 1, 1988·European Journal of Pediatrics·D Nadal, K Baerlocher
Nov 15, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·D M Williams
Sep 1, 1982·Archives of Disease in Childhood·K Méhes, E Petrovicz
Apr 1, 1997·Journal of Medical Genetics·Z Tümer, N Horn
Oct 1, 1993·European Journal of Pediatrics·J KreuderD Dralle
Jul 1, 1983·Journal of the American Academy of Dermatology·D B Hart
Jan 1, 1986·Clinical Neurology and Neurosurgery·I GotoY Kuroiwa
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Related Concepts

Brain Diseases, Metabolic, Acquired
Copper
Intravenous Injections
Menkes Kinky Hair Syndrome
Scanning Electron Microscopy

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