The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly and hepatic fibrosis, digestive symptoms and coagulation abnormalities. The condition is treated with mannose supplementation. Long-term outcomes in adults are not well described. We present a case of an adult female patient who discontinued mannose therapy in her adolescence. In adulthood she developed gastrointestinal problems, chronic anaemia and osteophytes in her knees.

中文翻译：

---

甘露糖磷酸异构酶-先天性糖基化疾病成年患者中止甘露糖治疗的临床结果。

甘露糖磷酸异构酶-先天性糖基化疾病（MPI-CDG）是由磷酸甘露糖异构酶缺乏引起的。临床特征包括高胰岛素血症性低血糖，蛋白质丢失性肠病，肝肿大和肝纤维化，消化系统症状和凝血异常。该病用甘露糖补充剂治疗。成人的长期结局没有得到很好的描述。我们介绍了一例成年女性患者，该患者在青春期停止甘露糖治疗。成年后，她的膝盖出现了胃肠道问题，慢性贫血和骨赘。