Intoleranţa ereditară la fructoză: capcană de diagnostic la sugar?

Introduction. Hereditary fructose intolerance (HFI) is an autosomal recessive disease characterized by the deficiency of aldolase B activity in the liver, kidney and intestine, lea­ding to growth failure, chronic liver or kidney disease. Case report. We present the case of a 6-month-old male with HFI who presented two episodes of acute liver failure (ALF). At the first admission in our hospital, at the age of 7 weeks, the laboratory parameters infirmed an inborn error of metabolism (IEM), the liver injury being correlated with a severe systemic infection with Pseudomonas aeruginosa, with a favorable evolution. Four months later, with the onset of complementary feeding with fruits or juices, the infant presented ALF again. HFI was confirmed by genetic tests, homozygote for A175D mutation in the aldolase B gene. After following a specific diet that consisted in the ex­clu­ding of fructose, sucrose and sorbitol, the clinical fea­tures and the laboratory parameters improved considerably. Conclusions. HFI can be an extremely severe condition, even life-threatening, but with an excellent evolution when the diagnosis is quick and the diet is started as early as pos­sible. This requires a high index of suspicion from the clinician regarding the possibility of an IEM.