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Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series
Miral M Abdulghfar1, Afaf Alsagheir2, Ismail A Abdullah3
1Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Al Takhassousi & 12713, 11211, Riyadh, Saudi Arabia.
Journal of Medical Case Reports
|July 12, 2025
Summary
Congenital hyperinsulinism due to GLUD1 mutations causes hypoglycemia and hyperammonemia. Early diagnosis and diazoxide treatment are crucial for managing this rare genetic disorder and preventing neurological complications.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Congenital hyperinsulinism (CHI) is a rare endocrine disorder characterized by excessive insulin secretion leading to persistent hypoglycemia.
- Hyperinsulinism-hyperammonemia syndrome (HHH) is a genetic subtype of CHI caused by activating mutations in the GLUD1 gene.
Purpose of the Study:
- To delineate the clinical spectrum, genetic variations, and patient outcomes for GLUD1-related HHH syndrome.
- To report findings from a tertiary care center in Saudi Arabia.
Main Methods:
- Retrospective case series of five Saudi patients diagnosed with GLUD1-associated HHH syndrome.
- Data collected included clinical, biochemical, imaging, and genetic information.
- Descriptive statistics were employed to analyze the data.
Main Results:
- All patients exhibited hypoglycemia, hyperinsulinemia, and hyperammonemia, with confirmed GLUD1 mutations.
- Diazoxide effectively managed hypoglycemia in most cases; however, two patients developed neurological complications.
- One adult patient experienced persistent neurological deficits post-pancreatectomy.
Conclusions:
- GLUD1-related HHH syndrome presents a diverse clinical picture with a risk of neurological impairment.
- Prompt diagnosis, genetic testing, and individualized treatment, including diazoxide, are vital for preventing severe outcomes.
- Further multicenter research is needed to understand long-term prognoses.
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