A Case of Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome due to a Mutation in the Glutamate Dehydrogenase Gene (GLUD1).
- Author:
Hye Young JIN
1
;
Jin Ho CHOI
;
Gu Hwan KIM
;
Jung Min KO
;
Han Wook YOO
Author Information
1. Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Hyperinsulinism;
Hyperammonemia;
Glutamate dehydrogenase;
Hypoglycemia
- MeSH:
Ammonia;
Blood Glucose;
Brain Injuries;
Congenital Hyperinsulinism;
Diazoxide;
Glucose;
Glutamate Dehydrogenase;
Glutamic Acid;
Humans;
Hyperammonemia;
Hyperinsulinism;
Hypoglycemia;
Infant;
Insulin;
Male;
Plasma;
Reference Values;
Seizures
- From:Journal of Korean Society of Pediatric Endocrinology
2009;14(2):168-173
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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. A 6-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time of seizure, the serum glucose and ammonia levels were 17 mg/dL and 203 micron mol/L, respectively. Even though he was fed as usual, his blood glucose level reduced to below 50 mg/dL with an increased plasma insulin level. He was thought to have hyperinsulinemic hypoglycemia associated with hyperammonemia. Analysis of the GLUD1 gene revealed a heterozygous c.1337G>A (p.Gly446Asp) mutation. He was administered diazoxide, following which his blood glucose levels were maintained within the normal range. Because HI/HA syndrome is a diazoxide-responsive form of CHI, early detection and appropriate management are important to prevent brain injury. Since patients with HI/HA syndrome may have neurological complications such as developmental delay, and cognitive impairment, careful and repeated neurologic evaluation is needed.
