Different genotypes in a large Italian family with recurrent hereditary fructose intolerance

Anna Caciotti, Maria Alice Donati, Andrea Adami, Renzo Guerrini, Enrico Zammarchi, Amelia Morrone

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

OBJECTIVES: Hereditary fructose intolerance is caused by a deficiency of the aldolase B enzyme, which is expressed in the liver, small intestine and kidneys. Patients usually show a marked aversion to fruits and sweets; if, however, it is not diagnosed, persistent or incidental ingestion of fructose might be lethal. Our paper aims at improving the clinical and molecular characterizations of these patients, to avoid dangerous misdiagnoses. METHODS: Here we report the molecular results in an Italian cohort: on the occurrence of aldolase B mutations and, in particular, on the clinical and molecular characterization of a large family with recurrent hereditary fructose intolerance. RESULTS: Patients included in our cohort showed the three most common mutations (p.A150P, p.A175D and p.N335K). Such molecular tests were enough to cover all the mutated alleles of hereditary fructose intolerance found in our patients. The allele frequencies of hereditary fructose intolerance mutations detected were 69.2% for p.A150P, 23.1% for p.A175D and 7.7% for p.N335K. The proband of the family with recurrence of the disease was heterozygous for the known p.A150P and p.A175D mutated alleles of the aldolase B gene. Molecular characterization of at-risk family members also identified the p.N335K mutation. In addition, the oldest affected patients exhibited mild clinical impairment. CONCLUSIONS: Our results indicate that the diagnosis of hereditary fructose intolerance can be complicated by clinical and genetic intrafamilial variability. A knowledge of the clinical and geographical history of each family member is thus essential, to reduce potentially lethal misdiagnoses and to facilitate such patients to receive appropriate genetic counselling.

Original languageEnglish
Pages (from-to)118-121
Number of pages4
JournalEuropean Journal of Gastroenterology and Hepatology
Volume20
Issue number2
DOIs
Publication statusPublished - Feb 2008

Fingerprint

Fructose Intolerance
Genotype
Mutation
Fructose-Bisphosphate Aldolase
Diagnostic Errors
Alleles
Genetic Counseling
Fructose
Gene Frequency
Small Intestine
Fruit
Eating
Kidney
Recurrence
Liver
Enzymes

Keywords

  • aldolase B
  • Genetic counselling
  • Hereditary fructose intolerance
  • Prevalence of aldolase B mutations

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. / Caciotti, Anna; Donati, Maria Alice; Adami, Andrea; Guerrini, Renzo; Zammarchi, Enrico; Morrone, Amelia.

In: European Journal of Gastroenterology and Hepatology, Vol. 20, No. 2, 02.2008, p. 118-121.

Research output: Contribution to journalArticle

Caciotti, Anna ; Donati, Maria Alice ; Adami, Andrea ; Guerrini, Renzo ; Zammarchi, Enrico ; Morrone, Amelia. / Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. In: European Journal of Gastroenterology and Hepatology. 2008 ; Vol. 20, No. 2. pp. 118-121.
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