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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
PubMed

Insights

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.

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