Hong Kong Journal of Paediatrics, vol.28, no.2, pp.130-132, 2023 (SCI-Expanded)
Hereditary fructose intolerance (HFI) is an autosomal recessive disease caused by a mutation in the ALDOB gene. Nausea, vomiting, abdominal pain, hypoglycaemia, hypertransaminasaemia and hepatosteatosis are observed after fructose intake. Symptoms usually occur after complementary feeding. Fructose is known to cause of non-alcoholic fatty liver disease (NAFLD). In studies of fructose-related hepatosteatosis have associated with obesity, dyslipidemia and insulin resistance, mostly as a result of high fructose intake. Although the pathogenesis of HFI is unclear, it is a rare cause of early-onset hepatosteatosis. Here, we report a 4-month-old infant with NAFLD who was diagnosed with HFI by detecting 'p.A105P and p.A175D compound heterozygous mutation' in the ALDOB gene. Our case was diagnosed with asymptomatic hepatomegaly and hepatosteatosis in the early period before complementary feeding. In this report, it was emphasized that HFI should be kept in mind in asymptomatic infants presenting with hepatosteatosis, even if they are breastfed.