ESPE Abstracts (2014) 82 P-D-1-1-881

A Case of Hyperinsulinism/Hyperammonemia Syndrome

Young Suk Shima, Hwal Rim Jeonga, Hae Sang Leea, Jung Sub Limb & Jin Soon Hwanga


bDepartment of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon/Gyeonggi-do, Republic of Korea; bDepartment of Pediatrics, Korea Cancer Center Hospital, Seoul/Seoul, Republic of Korea


Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism (CHI) caused by a mutation in the GLUD1 gene. It is characterized by hyperinsulinemic hypoglycemia accompanying hyperammonemia.

Objective and hypotheses: We report HI/HA syndrome with a 4-month-old male who hypoglycemic seizure.

Method: A 4-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time of seizure, the serum glucose, ammonia, insulin, and C-peptide levels were 49 mg/dl, 216 μmol/l, 7.1 μU/ml, and 2.54 ng/ml respectively. Even though he was fed as usual, his blood glucose level reduced to below 50 mg/dl with an increased plasma insulin level.

Results: He was thought to have hyperinsulinemic hypoglycemia associated with hyperammonemia. He was administered diazoxide, following which his blood glucose levels were maintained within the normal range.

Conclusion: HI/HA syndrome is a diazoxide-responsive form of CHI, early detection and appropriate management are important to prevent brain injury.

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