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Two cases of hereditary fructose intolerance
N Ananth1, G S Praveenkumar, K Aravind Rao
1Dept. of Biochemistry, Kasturba Medical College, Center for Basic Sciences, Bejai, 575004 Mangalore.
Hereditary fructose intolerance (HFI), a rare genetic disorder, can cause liver cirrhosis in children. This report details two Indian cases of HFI, highlighting its underdiagnosis and presenting symptoms like cataracts and liver damage.
Area of Science:
- Genetics
- Pediatric Gastroenterology
- Hepatology
Background:
- Hereditary fructose intolerance (HFI) is a rare metabolic disorder.
- It is a significant, yet often overlooked, cause of hepatic cirrhosis in pediatric populations.
- No cases of HFI have been previously documented in India.
Purpose of the Study:
- To report the first documented cases of HFI in India.
- To highlight the clinical presentation of HFI, including hepatic and ocular manifestations.
- To emphasize the importance of considering HFI in the differential diagnosis of pediatric liver disease.
Main Methods:
- Case report of two pediatric patients presenting with symptoms suggestive of HFI.
- Clinical evaluation including biochemical tests and imaging.
- Review of existing literature on HFI epidemiology and clinical features.
Main Results:
- Two cases of HFI were identified in India, a region with no prior reports.
- Both patients presented with bilateral cataracts.
- One patient also exhibited signs of liver cirrhosis.
Conclusions:
- HFI is an underdiagnosed condition in India and likely worldwide.
- Bilateral cataracts and hepatic dysfunction in young patients should prompt consideration of HFI.
- Early diagnosis and management of HFI are crucial to prevent severe liver complications.
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