Hyperinsulinaemic hypoglycaemia -: Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)
Hyperinsulinaemic hypoglycaemia -: Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)
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DOI：
10.1023/a:1013944308881
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发表时间：
2001-12-01
影响因子：
4.2
通讯作者：
Marquardt, T
中科院分区：
文献类型：
--
作者：
Böhles, H;Sewell, AC;Marquardt, T
本文描述了一名男婴，其表现为持续高胰岛素血症性低血糖，对二氮氧化合物治疗有反应。然而，由于水和电解质平衡紊乱导致癫痫发作，这种治疗被停止。葡萄糖稳态只能通过在3 8/12岁时进行的胰腺次全切除术来维持。他出现了严重的血栓形成，因此怀疑是先天性糖基化障碍（CDG）。转铁蛋白等电聚焦模式异常，经酶学和分子遗传学分析证实诊断为CDG Ia。这是第一例磷酸腺苷转氨酶缺乏症患者（McKusick 601785）表现为严重的高胰岛素性低血糖。
A male infant is described who presented with persistent hyperinsulinaemic hypoglycaemia, responding to diazoxide treatment. However, this therapy was discontinued because of seizures as a consequence of disturbed water and electrolyte balance. Glucose homeostasis could only be maintained by subtotal pancreatectomy, which was performed at 3 8/12 years of age. He developed a severe thrombosis, whereon a congenital disorder of glycosylation (CDG) was suspected. An abnormal transferrin isoelectric focusing pattern was found and the diagnosis of CDG Ia was confirmed by enzyme and molecular genetic analysis. This is the first patient with phosphomannomutase deficiency (McKusick 601785) described presenting with severe hyperinsulinaemic hypoglycaemia.