Abstract
The typical symptoms of the X-linked inherited kinky hair disease are present in a 6 year old boy: growth failure, severe mental retardation, pili torti, hypothermia & osteoporosis.
Since 1968 the content of copper in serum & urine of the patient was repeatedly determined. The mean value of serum copper was 52μg/100ml (n=6, controls 70-140μg/100 ml) & of urinary copper 56.5 μg/24hours (n= 5). Caeruloplasmin was 13 IU (n = 8, controls 36-74IU), the copper content of the liver 0.0068 and 0.0070 μg/mg wet weight (controls 0.0042-0.017 μg/mg. Recently, Danks et al. reported a defect in the intestinal absorption of copper in this disease (Pediatrics 50,188,1972. Science 179, 1142, 1973 ). The copper deficiency can well explain the symptoms present in the disease.
Absorption studies of copper in the patient, the heterozygous mother & other family members will be reported as well as the effect of parenterally administered copper on the patient's behaviour.
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Baerlocher, K., Nussbaumer, A., Werder, E. et al. MINERAL METABOLISM AND TREATMENT OF METABOLIC DISORDERS: MENKES' KINKY HAIR DISEASE: CONFIRMATION OF COPPER DEFICIENCY. Pediatr Res 8, 135 (1974). https://doi.org/10.1203/00006450-197402000-00055
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DOI: https://doi.org/10.1203/00006450-197402000-00055
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