The authors describe a patient with Menes. Syndrome and present the evidence that it is a syndrome of copper deficiency rather than a general deficiency. This new understanding of Menes. Syndrome suggests new avenues of research and may help us identify more targets for therapeutic interventions.
References 1. Belong, R.L. et al. Hemolysis: biochemical characterization of a patient who had it from infancy. Arch. This. Child. 60:, 1981. 2. O'Shagginess, G.J. et al. A case of primary congenital iron loss in two twin babies. N. EGL. J. Med. 327:, 1980. 3. Shaffer, D. et al. The iron deficiency and anemia syndromes.
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Diagnosis and therapy of Menkes syndrome a genetic form of copper deficiency1 2 Stephen G Kaler KEY WORDS Menkes syndrome copper monooxygenase catecholamines mutations splicing infants INTRODUCTION human copper deficiency resulting from defects in an X chromosomal gene that normally encodes a copper-transporting ATPase 1 3.
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