Fructose Metabolism Disorders

The lack of enzymes that metabolize the fructose can be asymptomatic or cause hypoglycemia.

Fructose is a monosaccharide which is present in high concentrations in fruit and honey, and is a part of sorbitol and sucrose. Fructose metabolism disorders are one of the many carbohydrate metabolism disorders.

The lack of enzymes that metabolize the fructose can be asymptomatic or cause hypoglycemia. Fructose is a monosaccharide which is present in high concentrations in fruit and honey, and is a part of sorbitol and sucrose. Fructose metabolism disorders are one of the many carbohydrate metabolism disorders. See also approach in a patient suspected of having an inborn error of metabolism of fructose-1-Phosphataldolase deficiency This deficiency causes the clinical syndrome of inherited fructose intolerance. Inheritance is autosomal recessive. The incidence is about 1 in 20,000 births. The children are healthy until they take fructose to fructose-1-phosphate then accumulates and causes hypoglycemia, nausea, vomiting, abdominal pain, sweating, tremor, confusion, lethargy, seizures and coma. A prolonged ingestion causes cirrhosis, mental confusion and a tubular renal acidosis with phosphate and glucose loss in the urine. The diagnosis of a lack of fructose 1-Phosphataldolase is suspected clinically because the symptoms do not appear until the fructose intake. It is protected by an enzyme in analysis of a liver biopsy or an induced hypoglycemia by a fructose infusion (200 mg / kg i.v.). The diagnosis and the identification of the heterogeneous carriers of the mutated gene are also possible by direct DNA analysis. (See also examination on suspicion of inherited metabolic disorders.) The short-term treatment of a fructose-1-phosphate aldolase deficiency consists of the administration of glucose for hypoglycemia; the long-term treatment includes the exclusion of fructose, sucrose and sorbitol from the diet. Many patients develop a natural aversion to fructose foods. The prognosis is excellent with treatment. Fruktokinasemangel This deficiency causes an increase in the fructose levels in the blood and urine (benign fructosuria). Inheritance occurs as an autosomal recessive, the incidence is 1 out of 130,000 births. The disease is asymptomatic and is diagnosed by chance when another reducing substance is detected (as glucose) in the urine. Fructose-1,6-bisphosphatase deficiency the deficiency impairs gluconeogenesis and results in Fastenhypoglykämie, ketosis and acidosis. The deficiency can be fatal in newborns. The inheritance is autosomal recessive, the incidence is not known. Febrile episodes can trigger the disease. Acute treatment of fructose-1,6-bisphosphatase deficiency is oral or i.v. Glucose. The fasting tolerance improves with age.

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