Disease relevance of Fructose Intolerance

• A 13-year-old boy is reported with chronic unspecific abdominal pain and growth retardation and so far misdiagnosed hereditary fructose intolerance (HFI), who developed life-threatening adverse effects during the fructose breath hydrogen test [1].
• This is a report of a five-year-old girl with phenylketonuria (PKU) and hereditary fructose intolerance (HFI) who underwent elective strabismus surgery [2].

High impact information on Fructose Intolerance

• Hereditary fructose intolerance (HFI) is a human autosomal recessive disease caused by a deficiency of aldolase B that results in an inability to metabolize fructose and related sugars [3].
• 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 [4].
• 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 [5].
• We screened the aldolase B gene in 14 unrelated Italian patients with hereditary fructose intolerance (HFI), and found two novel disease related mutations: a single nucleotide deletion in exon 2 (delta A20) that leads to an early stop codon, and a C-->T transition in exon 8 that substitutes an Arg with a Trp residue at codon 303 (R303W) [6].
• In two patients with hereditary fructose intolerance (HFI) the peak blood uric acid levels were 12.1 and 7.6 mg/100 ml, respectively, after fructose [7].

Chemical compound and disease context of Fructose Intolerance

• Carbohydrate intolerance to lactose is widely accepted as a cause of gastrointestinal symptoms, but controversy persists on how important dietary fructose intolerance (DFI) is in causing gastrointestinal pain and suffering and if an elimination diet can control the presenting complaints [8].

Biological context of Fructose Intolerance

• Hereditary fructose intolerance (HFI) is a potentially lethal inborn error in metabolism caused by mutations in the aldolase B gene, which is critical for gluconeogenesis and fructose metabolism [9].

References