A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant

被引：11

作者：

Deeb, Asma ^{[1
]}

Al Amoodi, Abdulla ^{[1
]}

机构：

[1] Mafraq Hosp, Paediat Endocrinol Dept, POB 2951, Abu Dhabi, U Arab Emirates

来源：

CLINICAL CASE REPORTS | 2018年 / 6卷 / 03期

关键词：

Glycation; hyperinsulinemia; hypoglycemia; mannose phosphate isomerase;

D O I：

10.1002/ccr3.1387

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

Key Clinical Message We report a 4 years girl with congenital disorders of glycosylation (CDG) type Ib due to a novel homozygous mutation in MPI gene. She presented with diazoxide-responsive hyperinsulinemic hypoglycemia. CDG should be considered in unexplained hypoglycemia particularly in consanguineous families. Diagnosis enables monitoring/prevention of disease comorbidities and early effective treatment.

引用

页码：479 / 483

页数：5

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