Blumenthal I, Lealman G T, Franklyn P P
Arch Dis Child. 1980 Mar;55(3):229-31. doi: 10.1136/adc.55.3.229.
A preterm baby boy with blood and bone changes of copper deficiency is described. Copper deficiency was suspected after fracture of the left femur during examination of the hip joint. A low serum copper concentration (2.7 mumol/l; 17.2 micrograms/100 ml) and caeruloplasmin (0.04 g/l; 0.004 g/100 ml) confirmed the diagnosis. Despite the introduction of solids at 18 weeks the copper concentration remained low, and treatment with copper sulphate (2.5 mg daily) was started at 6 months. Treatment was stopped at 9 months, when he was both physically and developmentally normal. When given a choline-containing vitamin preparation (Ketovite) he developed a fish odour because of the accumulation of trimethylamine. Withdrawal of this preparation at 6 weeks and substitution with a choline-free preparation (Abidec) was soon followed by disappearance of the odour. It is speculated that prematurity rather than copper deficiency was responsible for the poor activity of liver enzyme, trimethylamine oxidase.
本文描述了一名患有铜缺乏相关血液和骨骼改变的早产男婴。该男婴在髋关节检查时左股骨骨折后被怀疑存在铜缺乏。低血清铜浓度（2.7μmol/L；17.2μg/100ml）和铜蓝蛋白（0.04g/L；0.004g/100ml）证实了诊断。尽管在18周时开始添加辅食，但铜浓度仍较低，于是在6个月时开始用硫酸铜（每日2.5mg）进行治疗。9个月时停止治疗，此时他在身体和发育方面均正常。当给他服用含胆碱的维生素制剂（Ketovite）时，由于三甲胺积聚，他身上出现了鱼腥味。在6周时停用该制剂，换用不含胆碱的制剂（Abidec）后，气味很快消失。据推测，早产而非铜缺乏是导致肝脏酶三甲胺氧化酶活性低下的原因。
