Sabir Numaera, Jones Elizabeth A, Padmakumar Beena
Department of Paediatrics, Pennine Acute Trusts, Oldham, UK.
Manchester Centre for Genomic Medicine, Central Manchester Foundation Trusts, Manchester, UK.
BMJ Case Rep. 2016 Apr 26;2016:bcr2015213742. doi: 10.1136/bcr-2015-213742.
We report the case of a 9-year-old boy referred to secondary care with an unusual presentation of a fishy odour to his hands, feet, saliva and urine. Laboratory investigations including urine analysis and genetic testing confirmed the diagnosis of trimethylaminuria. The patient was referred to a geneticist and dietician, and consequently treated with dietary modification. He now has an arguably much improved quality of life.
我们报告了一例9岁男孩的病例，该男孩因双手、双脚、唾液和尿液出现异常的鱼腥味而转诊至二级医疗机构。包括尿液分析和基因检测在内的实验室检查确诊为三甲胺尿症。该患者被转诊给遗传学家和营养师，随后接受了饮食调整治疗。他现在的生活质量可以说有了很大改善。
