Case study on fructose intolerance

Examination of glucose kinetics, pancreatic alpha and beta cell function, plasma lipids, urinary acidification and calcium excretion has been undertaken in a patient with hereditary fructose intolerance. This case was unusual as it was associated with insulin-requiring diabetes, type IV hyperlipemia, hypercalciuria and renal calculi. He also demonstrated the previously described fructose-induced defect of urine acidification. Glucagon and C-peptide assays showed that the pancreatic alpha cells were stimulated by fructose and that the beta cells did not respond to fructose.

What to know about fructose intolerance

Hereditary fructose intolerance - Lifestyle News

Pathogenic variants in ALDOB lead to hereditary fructose intolerance HFI , which is caused by a deficiency of the enzyme fructose 1-phosphate aldolase aldolase B in the liver and kidneys. This test is indicated for any individual in whom hereditary fructose intolerance is suspected based on clinical or laboratory findings. Early diagnosis is important for proper management of clinical symptoms. Identification of disease-causing variants provide accurate risk assessment and carrier status for at-risk relatives. Hereditary fructose intolerance HFI is a metabolic disorder characterized by a deficiency of activity of the enzyme fructose 1-phosphate aldolase aldolase B in the liver and kidneys. Those affected with HFI typically come to clinical attention when they react to the introduction of fructose, sucrose, or sorbitol into their diets during the weaning process in infancy. Ingestion of these sugars results in acute symptoms including vomiting, nausea, abdominal pain, and sweating, as well as hypoglycemia and metabolic acidosis.

Hereditary Fructose Intolerance Case Study Solution & Analysis

Study record managers: refer to the Data Element Definitions if submitting registration or results information. A high fructose intake also increases blood lactate and uric acid concentrations. It has been proposed that uric acid may contribute to insulin resistance by impairing endothelium-dependent vasodilation, promoting pro-inflammatory effects and dyslipidemia by activating de novo lipogenesis. These consequences of fructose overconsumption may be even more marked in individuals with hereditary alterations in fructose metabolism.
An initiative of : Wageningen University. Fructose intolerance also known as fructose malabsorption and HFI Hereditary Fructose Intolerance are two very distinct metabolic disorders, in which fructose is not well tolerated. Both are often described wrongly as fructose allergy, which has not been described in medical literature and which is very unlikely to exist.
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