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April 1981, Vol 135, No. 4 >
Article | April 1981

Tissue Copper Concentrations of Patients With Menkes' Kinky Hair Disease FREE

DARRYL M. WILLIAMS, MD; CURTIS L. ATKIN, PHD
Am J Dis Child. 1981;135(4):375-376. doi:10.1001/archpedi.1981.02130280065022.
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Danks et al1 showed that Menkes' kinky hair disease (MKHD) is characterized by malabsorption of copper in association with certain symptoms of copper deficiency. Several lines of evidence now suggest that MKHD involves maldistribution rather than just malabsorption and deficiency of copper. First, in contrast to effective therapy for nutritionally copper-deficient infants,2 parenteral copper supplementation for patients with MKHD failed to effect improvements other than production of normocupremia and darkening of hair.1,3,4 Second, fibroblasts from patients with MKHD in tissue culture accumulated much more copper than did controls.5 Third, organ-specific accumulation and deficiencies of copper were found in three cases reported by a Danish group6,7; and fourth, similar anomalies were found in a supposed mouse analogue of MKHD.8

One of the Danish cases, a suspected MKHD fetus, had order of magnitude elevations of copper levels in kidney, spleen, pancreas, and placenta; slight elevations of

REFERENCES

1 +
Danks DM, Campbell PE, Stevens BJ, et al:  Menkes' kinky hair syndrome—an inherited defect in copper absorption with widespread effects . Pediatrics 1972;;50:188-201.
2 +
Ashkenazi A, Levin S, Djaldetti M, et al:  The syndrome of neonatal copper deficiency . Pediatrics 1973;;52:525-533.
3 +
Williams DM, Atkin CL, Frens DB, et al:  Menkes' kinky hair syndrome: Studies of copper metabolism and long-term copper therapy . Pediatr Res 1977;;11:823-826.
4 +
Grover WD, Johnson WC, Henkin RI:  Clinical and biochemical aspects of trichopoliodystrophy . Ann Neurol 1979;;5:65-71.
5 +
Goka TJ, Howell RR:  Copper metabolism in Menkes' disease . Monogr Hum Genet 1978;;10:148-155.
6 +
Heydorn K, Damsgaard E, Horn N, et al:  Extra-hepatic storage of copper—a male foetus suspected of Menkes' disease . Hum Genet 1975;;29:171-175.
7 +
Horn N, Heydorn K, Damsgaard E, et al:  Is Menkes' syndrome a copper storage disorder? Clin Genet 1978;;14:186-187.
8 +
Camakaris J, Mann JR, Danks DM:  Copper metabolism in mottled mouse mutants—copper concentrations in tissues during development . Biochem J 1979;;180:597-604.
9 +
Bloomer LC, Lee GR:  Normal hepatic copper metabolism , in Powell LW (ed): Metals and the Liver . New York, Marcel Dekker Inc, 1978;, pp 179-239.
10 +
Cartwright GE, Wintrobe MM:  Copper metabolism in normal subjects . Am J Clin Nutr 1964;;14:224-232.

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References

1 +
Danks DM, Campbell PE, Stevens BJ, et al:  Menkes' kinky hair syndrome—an inherited defect in copper absorption with widespread effects . Pediatrics 1972;;50:188-201.
2 +
Ashkenazi A, Levin S, Djaldetti M, et al:  The syndrome of neonatal copper deficiency . Pediatrics 1973;;52:525-533.
3 +
Williams DM, Atkin CL, Frens DB, et al:  Menkes' kinky hair syndrome: Studies of copper metabolism and long-term copper therapy . Pediatr Res 1977;;11:823-826.
4 +
Grover WD, Johnson WC, Henkin RI:  Clinical and biochemical aspects of trichopoliodystrophy . Ann Neurol 1979;;5:65-71.
5 +
Goka TJ, Howell RR:  Copper metabolism in Menkes' disease . Monogr Hum Genet 1978;;10:148-155.
6 +
Heydorn K, Damsgaard E, Horn N, et al:  Extra-hepatic storage of copper—a male foetus suspected of Menkes' disease . Hum Genet 1975;;29:171-175.
7 +
Horn N, Heydorn K, Damsgaard E, et al:  Is Menkes' syndrome a copper storage disorder? Clin Genet 1978;;14:186-187.
8 +
Camakaris J, Mann JR, Danks DM:  Copper metabolism in mottled mouse mutants—copper concentrations in tissues during development . Biochem J 1979;;180:597-604.
9 +
Bloomer LC, Lee GR:  Normal hepatic copper metabolism , in Powell LW (ed): Metals and the Liver . New York, Marcel Dekker Inc, 1978;, pp 179-239.
10 +
Cartwright GE, Wintrobe MM:  Copper metabolism in normal subjects . Am J Clin Nutr 1964;;14:224-232.

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