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 language | English |
|---|---|
| Pages (from-to) | 118-121 |
| Number of pages | 4 |
| Journal | European Journal of Gastroenterology and Hepatology |
| Volume | 20 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 2008 |
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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 journal › Article
}
TY - JOUR
T1 - Different genotypes in a large Italian family with recurrent hereditary fructose intolerance
AU - Caciotti, Anna
AU - Donati, Maria Alice
AU - Adami, Andrea
AU - Guerrini, Renzo
AU - Zammarchi, Enrico
AU - Morrone, Amelia
PY - 2008/2
Y1 - 2008/2
N2 - 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.
AB - 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.
KW - aldolase B
KW - Genetic counselling
KW - Hereditary fructose intolerance
KW - Prevalence of aldolase B mutations
UR - http://www.scopus.com/inward/record.url?scp=38049123445&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=38049123445&partnerID=8YFLogxK
U2 - 10.1097/MEG.0b013e3282f172e6
DO - 10.1097/MEG.0b013e3282f172e6
M3 - Article
C2 - 18188031
AN - SCOPUS:38049123445
VL - 20
SP - 118
EP - 121
JO - European Journal of Gastroenterology and Hepatology
JF - European Journal of Gastroenterology and Hepatology
SN - 0954-691X
IS - 2
ER -