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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 ...
Symptoms of HFI include vomiting, convulsions, irritability, poor feeding as a baby, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia and potentially kidney failure. [1] There are reported deaths in infants and children as a result of the metabolic consequences of HFI. Death in HFI is always associated with problems in diagnosis. [2]
Essential fructosuria is a clinically benign condition characterized by the incomplete metabolism ... Symptoms of both GSD types IIa and IIb are very similar due to a ...
Signs and symptoms [ edit ] Because of the enormous number of these diseases and the numerous systems negatively impacted, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence.
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.
Similarity in symptoms means that patients with fructose malabsorption often fit the profile of those with irritable bowel syndrome. [3] Fructose malabsorption is not to be confused with hereditary fructose intolerance, a potentially fatal condition in which the liver enzymes that break up fructose are deficient. Hereditary fructose intolerance ...
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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 ]