2015年12月17日 · HFI results from loss of aldolase B function. Normally aldolase B rapidly converts intravenous fructose to glucose, resulting in hyperglycemia; fructose may also be converted to lactate, provoking metabolic acidosis. Accumulation of fructose-1-phosphate in the setting of diminished aldolase B function inhibits gluconeogenesis and glycogenolysis ...

Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver.

2023年4月17日 · Fructose 1-phosphate aldolase deficiency or hereditary fruc­tose intol­er­ance (HFI) is an auto­so­mal reces­sive dis­order, caused by the deficiency in aldolase B (fructose-1, 6-bisphosphate aldolase), an enzyme responsible for the cleavage of fructose-1-phosphate. HFI is a metabolic disorder that usually manifests around 4-6 months of age when weaning is started.

In HFI, the diagnosis of homozygotes is difficult, requiring a genomic DNA screening with allele-specific probes or an enzyme assay from a liver biopsy. Once identified, parents of infants who carry mutant aldolase B alleles leading to HFI, or older individuals who have clinical histories compatible with HFI can be identified and counselled ...

Hereditary fructose intolerance (HFI) is a pathological condition that occurs due to a deficiency of enzyme aldolase B. It is characterized by hypoglycemia, lactic acidosis, hypophosphatemia, hyperuricemia, hypermagnesemia and hyperalanemia due to dysregulation of gluconeogenesis, glycogenolysis and decreased inorganic phosphate[ 4 ].

Upon identifying a mutation in the aldolase B gene, with the predominant global variants being p.(Ala150Pro) and p.(Ala175Asp), we will confirm the diagnosis of HFI. If no mutations are detected in the aldolase B gene, a mixed food tolerance test will be conducted to explore alternative pathologies.

2023年5月29日 · Fructose is a 6 carbon ketonic sugar that is commonly found in a wide variety of foods. Hereditary fructose intolerance is characterized by severe metabolic disturbances that include hypoglycemia, lactic acidosis, and hypophosphatemia. Hereditary fructose intolerance was originally characterized as an "idiosyncratic reaction to fructose" in a patient that developed violent nausea, abdominal ...

Hereditary fructose intolerance (HFI) is a rare inborn disease characterized by a deficiency in aldolase B, which catalyzes the cleavage of fructose 1,6-bisphosphate and fructose 1-phosphate (Fru 1P) to triose molecules. In patients with HFI, ingestion of …

Hereditary fructose intolerance (HFI, OMIM 22960), caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase, EC 4.1.2.13), is a recessively inherited condition in which affected homozygotes develop hypoglycaemic and severe abdominal symptoms after taking foods containing fruc …

2022年7月9日 · Hereditary fructose intolerance (HFI) is a rare autosomal recessive inherited disorder that occurs due to the mutation of enzyme aldolase B located on chromosome 9q22.3. A fructose load leads to the rapid accumulation of fructose 1-phosphate and manifests with its downstream effects. Most commonly c …