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KMID : 0648420090140020168
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Journal of Korean Society of Pediatric Endocrinology
2009 Volume.14 No. 2 p.168 ~ p.173
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A Case of Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome due to a Mutation in the Glutamate Dehydrogenase Gene (GLUD1)
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Jin Hye-Young
Choi Jin-Ho
Kim Gu-Hwan
Ko Jung-Min
Yoo Han-Wook
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Abstract
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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 μmol/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.
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KEYWORD
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Hyperinsulinism, Hyperammonemia, Glutamate dehydrogenase, Hypoglycemia
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