J Korean Soc Pediatr Endocrinol.
2009 Dec;14(2):168-173.
A Case of Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome due to a Mutation in the Glutamate Dehydrogenase Gene (GLUD1)
- Affiliations
-
- 1Division 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
- 2Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
- 3Ajou University Hospital, Center for Genetic Disease, Gyeonggi-do, Korea.
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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of Hyperinsulinism/hyperammonemia Syndrome
- A Case of Persistent Hyperinsulinemic Hypoglycemia Treated with Diazoxide
- A Case of Adult Onset Type II Citrullinemia with SLC25A13 Gene Mutation
- A Novel Argininosuccinate Synthetase Gene Mutation in a Korean Family with Type I Citrullinemia
- Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation
