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Infant presenting with seizures as a result of low serum copper with normal ceruloplasmin levels and normal copper urinary excretion. Improvement of the physical status can be observed following oral supplementation. Postulated to result from a defect in copper absorption.
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One case with two affected relatives has been described in the literature.
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Autosomal dominant or X-linked dominant.
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Copper is an essential trace element whose absorption, distribution, and elimination are highly regulated. It is required for the catalytic activity of several critical enzyme systems. Copper zinc superoxide dismutase (Cu/Zn SOD) acts as a free radical scavenger, cytochrome c oxidase functions in energy production, dopamine β-hydroxylase catalyzes the conversion of dopamine into noradrenaline, tyrosinase is required for pigment formation, ceruloplasmin is a copper transport protein and antioxidant, and lysyl oxidase (LOX) is important for tissue integrity. It is not known whether copper plays a role in normal synaptic physiology; however, there is evidence suggesting that copper does accumulate in synaptic vesicles, especially glutaminergic neurons and may be coreleased with neurotransmitters during normal synaptic events. Postsynaptically copper may interact with receptors and or voltage-gated ion channels modulating their activity. Copper acts as a noncompetitive antagonist at N-methyl-D-aspartic acid (NMDA) and Gamma Aminobutyric Acid A (GABAA) receptors. NMDA receptors mediate a wide range of important nervous system functions and are thought to be involved in the development of neuropathic and chronic pain states.
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Clinically defined copper deficiency is rare in Western societies; however, altered copper metabolism may influence the conduct and outcome of anesthesia secondary to abnormalities in hemopoietic, cardiovascular, connective tissue, immune, and nervous systems. Copper deficiency can include prolonged unsupplemented total parental nutrition (TPN) or enteral nutrition, infants fed with unmodified cow milk based diets, prematurity, gastric bypass and laparoscopic adjustable gastric banding surgery, burns, malabsorption syndromes, and large doses of over the counter vitamins containing zinc and iron. Loss of ceruloplasmin bound copper can also occur in patients undergoing continuous ambulatory peritoneal dialysis for renal failure. Clinical copper toxicity is also rare but is found in genetic overload disorders, occupational exposure, or through ingestion and may also influence anesthetic management through multiorgan failure. There is no single sensitive and specific test for diagnosing copper related diseases. Plasma copper and ceruloplasmin levels are usually taken as surrogate measurements of body copper storage. Significant changes in free copper may not be detected by measuring plasma copper (normal range 13-22 µmol/L) and ceruloplasmin levels.
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Other causes of copper deficiency (eg, low intake, prolonged parenteral nutrition, alkali medication for renal acidosis, long-term zinc therapy) must be excluded to make the diagnosis. Central Nervous System: Copper is found throughout the brain especially in the basal ganglia, hippocampus, ...