Hereditary Fructose Intolerance Diagnosed in Adulthood
Min Soo Kim1, Jin Soo Moon1, Man Jin Kim2,3
1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Gut and Liver
|October 8, 2020
Summary
Hereditary fructose intolerance (HFI) is a genetic disorder. A 41-year-old woman was diagnosed with HFI in adulthood due to aldolase B gene mutations, highlighting the importance of genetic testing.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Hereditary fructose intolerance (HFI) is an autosomal recessive disorder.
- It results from mutations in the aldolase B gene, leading to severe metabolic disturbances after fructose ingestion.
- Symptoms include nausea, vomiting, hypoglycemia, and liver damage, potentially causing failure to thrive and organ failure.
Observation:
- HFI typically manifests in infants during weaning.
- Some patients remain undiagnosed due to early avoidance of sweets.
- This report details a 41-year-old woman presenting with HFI symptoms after consuming sweets.
Findings:
- Genetic analysis revealed compound heterozygous pathogenic variants in the aldolase B gene.
- Specific mutations identified were nonsense (c.178C>T, p.Arg60Ter) and frameshift (c.360_363delCAAA, p.Asn120LysfsTer32).
- This represents the first reported case of an adult-diagnosed Korean HFI patient.
Implications:
- Adult diagnosis of HFI is possible, even in cases with delayed presentation.
- Genetic analysis of the aldolase B gene is crucial for accurate HFI diagnosis.
- Early diagnosis and dietary management are vital for preventing severe health complications and improving prognosis.
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