Non-alcoholic fatty liver in hereditary fructose intolerance.

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is characterized by fat accumulation affecting >5% of the liver volume that is not explained by alcohol abuse. It is known that fructose gives rise to NAFLD and it has been recently described that the ingestion of fructose in low amounts in aldolase B deficient mice is associated with the development of fatty liver. Therefore, it is reasonable that patients with HFI (Hereditary Fructose Intolerance) present fatty liver at diagnosis, but its prevalence in patients treated and with adequate follow-up is not well documented in the literature. The aim of this study is to analyze the association between HFI and NAFLD in treated patients. METHODS: A cross-sectional observational study was conducted. The population comprised 16 genetically diagnosed HFI patients aged from 3 years to 48 and in dietary treatment of fructose, sorbitol and sacarose exclusion at least for two years. Blood samples were obtained for analytical studies and anthropometric measurements of each patient were performed. RESULTS: Patients presented a Body Mass Index (BMI) of 17.9 ± 2.9 kg/m2. The HOMA index and Quick index were in normal range for our population. The S-adenosyl-methionine (SAM)/S-adenosyl-l-homocysteine (SAH) ratio was increased in the patients in whom this analysis was performed. By imaging techniques it was observed that 9 of the 16 patients presented fatty liver (7 by hepatic MRI). Of these 9 patients, only 3 presented hepatomegaly. 7 of 9 patients affected by the c.448G > C mutation had fatty infiltration, of which three of them presented in addition hepatomegaly. CONCLUSIONS: There is a high prevalence of fatty liver in HFI patients and it is not related to obesity and insulin resistance. The diagnosis of fatty liver in HFI patients and, above all, the identification of new therapeutic approaches, can positively impact the quality of life of these patients.

The analysis of clinical manifestations and genetic mutations in a child with hereditary fructose intolerance / 临床儿科杂志

Objective To analysis the clinical and gene mutation characteristics of hereditary fructose intolerance (HFI). Methods The clinical features and the results of gene testing in the child with HFI and her parents were analyzed retrospectively. Gene sequencing was carried out by high-throughput sequencing and validated by Sanger sequencing. Results The 4-year-3-month old girl had recurrent hypoglycemia episodes and growth retardation. When the condition was stable, the levels of lactic acid and urine micro protein were slightly higher, and the levels of thyroid hormone, cortisol, glycosylated hemoglobin, insulin and C peptide were normal.EEG showed epileptiform activity.Gene sequencing revealed the presence of aldolase B gene(ALDOB) compound heterozygous mutations, a novel splicing mutations (c.325-1G>A) in intron 3 and a frameshift mutation (c. 865delC;p.L289fs*10) in exon 8. Her father carries a frameshift mutation, and her mother carries a splicing mutation. Conclusion The diagnosis of HFI caused by ALDOB mutation can be confirmed by high-throughput sequencing technology.