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Hyperinsulinemic-euglycemic Clamps in Conscious, Unrestrained Mice
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The hyperinsulinism/hyperammonemia syndrome.

Andrew A Palladino1, Charles A Stanley

  • 1The Children's Hospital of Philadelphia, Division of Endocrinology and Diabetes, University of Pennsylvania, School of Medicine, Philadelphia, PA 19104, USA. palladinoa@email.chop.edu

Reviews in Endocrine & Metabolic Disorders
|October 12, 2010
PubMed
Summary
This summary is machine-generated.

Hyperinsulinism/hyperammonemia (HI/HA) syndrome, caused by glutamate dehydrogenase (GDH) gain-of-function mutations, leads to hypoglycemia and high ammonia. Diazoxide effectively manages HI/HA syndrome symptoms.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a common congenital hyperinsulinism (HI) form.
  • It presents with hypoglycemia and elevated ammonia, linked to glutamate dehydrogenase (GDH) gain-of-function mutations.
  • GDH is crucial in metabolic pathways and expressed in vital organs like the liver, kidney, brain, and pancreatic beta-cells.

Purpose of the Study:

  • To detail the genetic basis and clinical manifestations of HI/HA syndrome.
  • To explore the role of GDH gain-of-function mutations in HI/HA.
  • To discuss therapeutic strategies for HI/HA syndrome.

Main Methods:

  • Review of existing literature on HI/HA syndrome.
  • Analysis of genetic mutations in glutamate dehydrogenase (GDH).
  • Clinical case study review for HI/HA patients.

Main Results:

  • Gain-of-function mutations in GDH are the primary cause of HI/HA syndrome.
  • HI/HA patients exhibit fasting/protein-sensitive hypoglycemia and hyperammonemia.
  • Seizures, particularly absence seizures, occur even without hypoglycemia.

Conclusions:

  • HI/HA syndrome is a distinct inborn error of metabolism caused by GDH gain-of-function mutations.
  • Diazoxide, a KATP channel agonist, is an effective treatment for HI/HA hypoglycemia.
  • GDH mutations also play a role in other HI forms, like SCHAD deficiency.