Related Experiment Video
Updated: May 25, 2026
02:22
Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
Published on: April 12, 2024
Congenital hyperinsulinism with hyperammonaemia
Alex Pschibul1, Jörg Müller, Hubert Fahnenstich
1St Elisabethen Hospital, Paediatrics, Feldbergstr 15, Lörrach, 79359, Germany.
BMJ Case Reports
|February 9, 2012
Summary
Congenital hyperinsulinism, a common cause of infant hypoglycemia, can present differently. This case highlights a rare glutamate dehydrogenase gene mutation causing early-onset hypoglycemia responsive to diazoxide.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in neonates.
- Clinical presentation and treatment response in CHI vary based on the underlying genetic cause.
- Early diagnosis and management are crucial for preventing neurological complications.
Purpose of the Study:
- To report a case of congenital hyperinsulinism with a novel genetic mutation.
- To discuss the diagnostic challenges and therapeutic strategies for CHI.
- To highlight the importance of genetic testing in understanding CHI pathophysiology.
Main Methods:
- Case report of a female infant with recurrent hypoglycemia.
- Metabolic workup including urine organic acids and ammonia levels.
- Genetic testing for mutations in known CHI-related genes.
- Treatment with diazoxide and clinical response monitoring.
Main Results:
- The infant presented with early-onset, recurrent hypoglycemia, mild hyperammonemia, and elevated urinary alpha-ketoglutarate.
- Genetic analysis revealed a de novo mutation in exon 7 of the glutamate dehydrogenase (GLUD1) gene.
- Hypoglycemic episodes were successfully managed with diazoxide treatment.
Conclusions:
- This case illustrates a rare genetic variant of congenital hyperinsulinism caused by a GLUD1 mutation.
- The findings underscore the heterogeneity of CHI and the need for comprehensive genetic analysis.
- Diazoxide remains an effective first-line therapy for many forms of CHI.
Related Concept Videos
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:29Hepatic Encephalopathy
DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
01:21Overview of Protein Metabolism
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
01:12Type I Diabetes I: Introduction
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
01:23Urea Cycle
The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
01:26Diabetes Mellitus: Introduction
Diabetes mellitus consists of chronic metabolic disorders characterized by persistent hyperglycemia. This elevated blood glucose results from defects in insulin secretion, impaired insulin action, or both. Insulin, produced by pancreatic β-cells, is essential for maintaining glucose homeostasis by facilitating cellular glucose uptake for energy or storage. Disruptions in insulin production or function lead to glucose accumulation in the bloodstream, causing the clinical features and long-term...