Search results
Results from the WOW.Com Content Network
Essential fructosuria is a genetic condition that is inherited in an autosomal recessive manner. [3] Mutations in the KHK gene, located on chromosome 2p23.3-23.2 are responsible. The incidence of essential fructosuria has been estimated at 1:130,000. [4] The actual incidence is likely higher, because those affected are asymptomatic. [citation ...
The following list of favorable foods was cited in the paper: "Fructose malabsorption and symptoms of Irritable Bowel Syndrome Guidelines for effective dietary management". [19] The fructose and glucose contents of foods listed on the Australian food standards [ 23 ] would appear to indicate that most of the listed foods have higher fructose ...
Treatment of HFI depends on the stage of the disease, and the severity of the symptoms. Stable patients without acute intoxication events are treated by careful dietary planning that avoids fructose and its metabolic precursors. Fructose is replaced in the diet by glucose, maltose or other sugars.
Classic form: Symptoms usually appear in early childhood. Myopathy. Exercise-induced muscle cramps, weakness and sometimes rhabdomyolysis. Nausea and vomiting following strenuous exercise. Myoglobinuria, haemolytic anaemia, Hyperuricemia is common. High levels of bilirubin and jaundiced appearance possible. Late-onset form: Presents later in life.
Fructosuria or hepatic fructokinase deficiency is a rare but benign inherited metabolic disorder. [8] This condition is caused by a deficiency of fructokinase in the liver. Affected individuals usually display a large blood fructose concentration after the ingestion of fructose, sucrose or sorbitol. [ 9 ]
The first known description of a patient with this condition was published in 1970 in The Lancet journal. [1]Early research into the disorder was conducted by a team led by Anthony S. Pagliara and Barbara Illingworth Brown at Washington University Medical Center, based on the case of an infant girl from Oak Ridge, Missouri.
The lack of two important enzymes in fructose metabolism results in the development of two inborn errors in carbohydrate metabolism – essential fructosuria and hereditary fructose intolerance. In addition, reduced phosphorylation potential within hepatocytes can occur with intravenous infusion of fructose.
"Clinical practice guidelines for healthy eating for the prevention and treatment of metabolic and endocrine diseases in adults: cosponsored by the American Association of Clinical Endocrinologists/the American College of Endocrinology and the Obesity Society". Endocr Pract. 19 (Suppl 3): 1– 82. doi: 10.4158/EP13155.GL. PMID 24129260.