[Partial fructose intolerance or fructose malabsorption?].
Explore the source record for details and available documents.
Adult↗
SEARCH · Search PubMed
Results for “Fructose Intolerance”
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
[Adults with hereditary fructose intolerance: risks of fructose infusion].
After her first grand mal seizure a 30-year-old woman was given a fructose infusion by an emergency doctor. On admission to hospital she complained of severe nausea. Ultrasonography revealed hepatosplenomegaly and the gamma-GT concentration was raised to 25 U/l. As hyperinsulinism was suspected an oral glucose tolerance test was suggested, but refused by the patient. She reported marked aversion to all sweet foods. Examination of an endoscopically obtained liver biopsy revealed clear reduction in fructoaldolase activity in liver tissue, i.e. the diagnosis of hereditary fructose intolerance. Three of the patient's siblings were also affected. The widespread use of infusion solutions containing sorbitol and fructose has twice proved acutely hazardous in this patient and is generally life-threatening for persons with an inborn error of metabolism whose pathologic status often remains undiagnosed to an adult age.
Adult↗
Subgingival microflora, dental and periodontal conditions in patients with hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is a rare autosomally recessive disease which leads to severe hypoglycemia. The fructose-free diet of these patients apparently influences dental health. Half of the patients are free of caries, but there are no reports on their periodontal condition nor on the composition of their subgingival microflora. Therefore 18 patient with HFI were examined for the following parameters: radiographic bone loss, caries rate, gingival bleeding, occurrence of calculus, pocket depths, salivary flow rate, buffer capacity and pH from paraffin wax-stimulated saliva. Salivary S. mutans and lactobacilli were also enumerated. Specific antibody titers from whole saliva and serum to Actinobacillus actinomycetemcomitans gamma 4, Bacteroides gingivalis, and Capnocytophaga ochracea were determined with ELISA. Finally the subgingival plaque was analyzed by culture. Altogether 196 anaerobic or microaerophilic isolates representing 29 different species were obtained from the HFI patients and 164 isolates of 26 species from the controls. The frequency of Actinomyces odontolyticus, Veillonella parvula, and Wolinella recta in the HFI patients was significantly high The DMF-induces were lower in the study group than in the controls and so was the occurrence of S. mutans and lactobacilli in the saliva. Of the periodontal parameters examined, the only difference found was an increased incidence of gingival bleeding and calculus formation in the HFI patients. The results suggest that in the HFI patients the common gingival bleeding is associated with the more frequent occurrence of Actinomyces odontolyticus, Veillonella parvula, and Wolinella recta.
Adolescent↗
Molecular evidence for compound heterozygosity in hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is an inborn error of metabolism, inherited as an autosomal recessive disorder and caused by a decrease in the activity of fructose-1-phosphate aldolase (aldolase B) in affected individuals. Investigation of the molecular basis of HFI is reported here by the identification of two molecular lesions in the aldolase B gene of the HFI individual. Using polymerase chain reaction to specifically amplify exons at this locus and T7 polymerase for the sequence determination of these double-stranded fragments, we show the mutational heterogeneity of the proband. One allele, previously indicated by restriction analysis, was confirmed as A149P (Ala 149 to Pro in exon 5). The other allele was identified as a 4-bp deletion found in exon 4, a deletion which causes a frameshift at codon 118, resulting in a truncated protein of 132 amino acids. Segregation of these mutant alleles in the proband's family was shown by using allele-specific oligodeoxynucleotides to probe blots of amplified DNA. The techniques employed here represent a rapid and efficient method for detection of other mutations in families with this disease. In addition, the ability to detect mutant alleles by allele-specific hybridization offers a new method for definitive diagnosis, a method which avoids a fructose loading or liver-biopsy examination.
Adult↗
Partial aldolase B gene deletions in hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is an autosomal recessive condition caused by a deficiency of aldolase B. We have recently shown that three point mutations in this gene account for approximately 85% of HFI alleles in Europe and the United States and are thus of diagnostic importance. In this paper we define three new lesions in the aldolase B gene: two are large deletions, one of 1.65 kb and one of 1.4 kb; the third is a small deletion of 4 bp. We have determined the breakpoints of these deletions and have demonstrated that the presence of such lesions may complicate the genotyping of individuals for diagnosis of HFI.
Base Sequence↗
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients exhibit a deficiency of fructose 1-phosphate aldolase (aldolase B), the isozyme expressed in tissues that metabolize fructose. The eight protein-coding exons, including splicing signals, of the aldolase B gene from one HFI patient were amplified by PCR. Dot-blot hybridization of the amplified DNA with allele-specific oligonucleotide (ASO) probes revealed a previously described A149P mutation in one allele from the proband. The mutation in the other allele was identified by direct sequencing of the double-stranded PCR-amplified material from the proband. The nucleotide sequence of exon 9 revealed a 7-base deletion/1-base insertion (delta 7 + 1) at the 3' splice site of intron 8 in one allele. This mutation was confirmed by cloning PCR-amplified exon 9 of the proband and determining the sequence of each allele separately. ASO analysis of 18 family members confirmed the Mendelian inheritance of both mutant alleles. The implications of this unique splice-site mutation in HFI are discussed.
Adolescent↗
Case report: heterogeneity of aldolase B in hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is a recessive genetic disorder with an estimated disease frequency of 1 in 20,000 and a carrier frequency of 1 in 70. Affected individuals are unable to assimilate fructose from fruit sugars and may develop severe hypoglycemia, metabolic problems, and death if misdiagnosed. Those who survive childhood learn to avoid sweets, effectively preventing further symptoms and complications. The disease is caused by a genetically defective hepatic enzyme, aldolase B. Traditionally, diagnosis has been made by intravenous fructose challenge or by liver biopsy, both difficult and risky invasive tests. Identification of mutations of the aldolase B gene by analysis of DNA from blood leukocytes is now possible, allowing for potential noninvasive diagnosis of subjects at risk in the future. The authors demonstrate heterozygosity for an aldolase B gene mutation in a patient with HFI.
Adult↗
Hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is an inborn error of carbohydrate metabolism that is inherited as an autosomal recessive condition. The disease is caused by a catalytic deficiency of aldolase B and is characterized by severe abdominal symptoms and hypoglycaemia which follow the ingestion of fructose, sucrose or sorbitol. The exact prevalence of HFI in different populations is unknown but studies from Switzerland suggest a disease frequency of about 1 in 20,000 live births, thus predicting a carrier frequency of greater than 1% and a gene prevalence that approaches polymorphic frequency. It is notable that many patients who endure severe symptoms during early infancy develop a marked aversion to harmful foodstuffs and thereby survive to adulthood. Although exposure to fructose may prove to be fatal in this disorder, institution of a strict exclusion diet is curative. HFI, when treated rigorously after diagnosis, is thus compatible with a long and healthy life. HFI vividly illustrates the interplay of dietary factors and heredity in the development of human disease. The recent identification of genetic lesions that cause this disorder further demonstrates the remarkable clinical benefits that may accrue from the study of the molecular basis of inherited diseases and its population genetics: it is now possible to detect asymptomatic disease carriers and diagnose the disorder in affected families by non-invasive analysis of small samples of genomic DNA. Moreover, the systematic investigation of natural mutations in the human gene for aldolase B has allowed regions that are critical for catalytic function of this enzyme to be identified as part of an extended study of its molecular biology.
Adult↗
Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is an inborn error of metabolism caused by aldolase B deficiency. The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exon 5), A174D (a C----A transversion in exon 5), L288 delta C (a base pair deletion in exon 8), and N334K (a G----C transversion in exon 9). We have investigated the occurrence of these mutations in 11 Italian patients affected by HFI using PCR and hybridisation to specific oligomers. We found that four patients were homozygous for the A149P mutation, two patients were homozygous for the A174D mutation, three patients were compound heterozygotes for both the A149P and A174D mutations, one patient was homozygous for the N334K mutation, and one patient did not show any of the reported mutations (HFI diagnosis carried out by aldolase B assay). The L288 delta C mutation has not been found in this survey.
Base Sequence↗
Adult hereditary fructose intolerance.
Hereditary fructose intolerance was diagnosed in a 69-year-old man on the basis of his medical history and the response to an intravenous fructose tolerance test. Three men of the same age as our patient were used as control subjects. Since the severity may vary and affected individuals self-impose fructose and sucrose restriction, they are essentially symptom free. The diagnosis can only be suspected by taking a careful dietary history. The prevalence of this condition in adults is unknown. It is rare but is likely to be more common than data in the literature would indicate.
Aged↗
Unusual cerebral manifestations in hereditary fructose intolerance.
Five children with hereditary fructose intolerance developed symptoms of neurological impairment. In three of them, neurological involvement was related to the acute hepatic toxicity of fructose (hypoglycemia, abnormal coagulation, cardiovascular collapse); in the other two, such a relationship could not be demonstrated. Neurological impairment is not classic in hereditary fructose intolerance, but its occurrence in the acute phase of the disease is possible and does not constitute an argument against the diagnosis.
Brain Diseases, Metabolic↗
Congenital hereditary fructose intolerance and pregnancy.
Congenital hereditary fructose intolerance is associated with the inability to tolerate fructose and carbohydrates, which are converted into fructose. We describe management of a pregnancy complicated by this disease in the mother and its implications for the neonate.
Adult↗
[Metabolic changes in patients with hereditary fructose intolerance. A contribution to the topic of fructose administration for parenteral feeding].
The literature contains a number of reports of death following the intravenous administration of fructose in patients with hereditary fructose intolerance (HFI). The aim of the present study was, therefore, to investigate the metabolic changes occurring during intravenous administration of fructose to patients with HFI, with the aim of identifying metabolic parameters that would permit the early diagnosis of HFI. Also, the deaths reported in the literature were analyzed. In three of our own patients with fruit intolerance known since childhood, and in volunteers with normal metabolism, a one-hour intravenous fructose tolerance test (1.7 g fructose/min) was performed. An analysis was done using the usual enzymatic and chemical methods: blood glucose, fructose, lactic acid, serum uric acid, ammonia, free fatty acids, inorganic phosphate, and serum amino acids (ion exchange chromatography). During fructose infusion, the following metabolic changes were detected: hypoglycemia (20 to 60 mg/dl), increase in blood fructose levels (up to 350 mg/dl), hypophosphatemia (2 to 3 mg/dl), hyperlacticacidemia (up to 60 mg/dl), elevation of plasma ammonia levels (up to 120 mg/dl), increased serum glutamate, and a decrease in serum glutamine, as also hyperuricemia (up to 10 mg/dl). On termination of the fructose infusion, these changes were completely reversible. Analysis of the deaths reported in the literature revealed a known intolerance to fruit or sweets, and that no regular metabolic studies were apparently performed. Although HFI is rare, use should be made of the known advantages of sugar substitutes in post-aggression metabolism.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
Patients with hereditary fructose intolerance have normal erythrocyte aldolase activity.
Erythrocyte fructose 1,6-bisphosphate aldolase (EC 4.1.2.13) activity was measured in eight children and adults with hereditary fructose intolerance and found to be normal when compared with eleven healthy controls. Therefore, hereditary fructose intolerance cannot be diagnosed by assaying red blood cell aldolase.
Adolescent↗
[Hereditary fructose intolerance (author's transl)].
Hereditary fructose intolerance (HFI) is the most important disturbance in human fructose metabolism. This paper deals with the present knowledge of biochemistry and pathophysiology of this inborn error of metabolism, which is often wrongly diagnosed and gives a detailed description of diagnostic and therapeutic procedures.
Carbohydrate Metabolism, Inborn Errors↗
[Postoperative fructose infusion in a case of presumed hereditary fructose intolerance (author's transl)].
Hereditary fructose intolerance (HFI) was diagnosed in a 61 year-old male patient on account of liver dysfunction followed by prolonged shock immediately after the administration of a fructose and lactose infusion postoperatively. The diagnosis of HFI was based on an increased value of fructose, hypoglycaemia, lactic acidosis and diminution of the phosphate level in combination with the typical family history. The patient's children showed a normal reaction to fructose administration. The therapy included glucose, insulin and heparin administration, balance of acidosis and partial exchange of blood, which resulted in improvement in the glucose level, coagulation factors and acidosis, but could not prevent further liver damage and uraemia with a fatal outcome.
Acidosis↗
Molecular analysis of aldolase B genes in hereditary fructose intolerance.
The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149----pro) was found in 67% of alleles but was significantly more common in patients from northern than from southern Europe. Two other point mutations of aldolase B were identified. A174D (C----A; ala 174----asp) was found in subjects from Italy, Switzerland, and Yugoslavia (overall frequency 16%) but not in those from the United Kingdom, France, or the United States. L288 delta C carried a single base-pair deletion causing frameshift at codon 288 and was restricted to Sicilian subjects. By testing for these mutations in amplified DNA with a limited panel of allele-specific oligonucleotides, more than 95% of HFI patients will be susceptible to genetic diagnosis.
Alleles↗
[Hereditary fructose intolerance with early onset].
Four cases of hereditary fructose intolerance with an early onset are reported. The features of acute liver failure in the neonatal period include a haemorrhagic syndrome, collapse, neurological features, hypoglycaemia, disturbed bleeding and clotting studies and abnormal liver function tests. Investigations into the aetiology include a search for bacterial or viral infection but particularly for a metabolic cause: especially for hereditary fructose intolerance which may be difficult to distinguish from tyrosinosis. Finally, methods of treatment are discussed: continuous glucose infusion, exchange transfusion, assisted ventilation, and dietary measures beginning with protein exclusion. The importance of careful observation is stressed (particularly sequential studies of bloodclotting factors).
Alanine Transaminase↗