Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Appendectomy was performed in a 14 1/2-year-old boy with undiagnosed hereditary fructose intolerance because of chronic recurrent abdominal pain. During and after operation fructose containing solutions were infused. The patient received a total of 250 g fructose intravenously over 30 hours. Hours after onset of infusion he became soporous, hypoglycaemic and acidotic and was anuric after one day. Although the diagnosis was suspected by the end of the first postoperative day and fructose had been cancelled and haemodialysis been started, the boy died after a further 3 days with signs of acute kidney and liver failure. The diagnosis of hereditary fructose intolerance was biochemically established in post mortem liver tissue. This case recalls the fact that fructose, sorbitol or invert sugars should not be added to infusion solutions as they may be toxic for healthy persons and imply a lethal risk for patients with undiagnosed hereditary fructose intolerance, even well beyond the baby and infant period.
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PMID:[Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance]. 685

Hereditary fructose intolerance is an autosomal recessive disorder that illustrates vividly the interplay between heredity and environment in the genesis of human nutritional disease. Genetically determined defects of an isozyme of fructose bisphosphate aldolase (aldolase B, which is specialized for the metabolic assimilation of dietary sugars) predispose to this widely distributed condition. Ingestion of fructose, sorbitol, or sucrose induces abdominal pain, vomiting, and metabolic disturbances--including low concentrations of blood glucose--that may prove fatal. The response to dietary exclusion is rapid and, when so treated, the disease is compatible with a normal life span. A noteworthy feature of the condition in individuals who survive the stormy period of weaning is the development of powerful aversions to fruit, nuts, and sweet-tasting foods and drinks. The incidence of dental caries is consequently much reduced.
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PMID:Aldolase B and fructose intolerance. 829 92

Hereditary fructose intolerance (HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1, 6-bisphosphate aldolase). Herein we report on a case of hereditary fructose intolerance with initial presentation of episodic unconsciousness, seizure, hypoglycemia, hepatomegaly, and abnormal liver function since the patient was 11 months old. She was diagnosed as Reye's-like syndrome according to a liver biopsy done at 20 months of age. As she grew up, cold sweating, abdominal pain or gastrointestinal discomfort shortly after the intake of fruits was noted and she developed an aversion to fruits, vegetables and sweet-tasting foods. At 9 years of age, a fructose tolerance test signified a positive result that induced hypoglycemia, transient hypophosphatemia, hyperuricaemia, elevation of serum magnesium, and accumulation of lactic acid. Appropriate dietary management and precautions were recommended. The patient has been symptom-free and exhibited normal growth and development when followed up to 12 years of age.
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PMID:Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. 1102 Oct 9

Usage of hydrogen breath tests has become one of the standard procedures in diagnosing chronic unspecific abdominal pain. These tests are said to be of sufficient specificity and sensitivity, are easily done, non-invasive and are more often practiced in outpatients. A 13-year-old boy is reported with chronic unspecific abdominal pain and growth retardation and so far misdiagnosed hereditary fructose intolerance (HFI), who developed life-threatening adverse effects during the fructose breath hydrogen test. It is concluded that the possibility of HFI should be excluded first by a carefully explored dietary history before the fructose breath test is performed under medical supervision. If there is any suspicion of HFI, a molecular genetic analysis should be preferred.
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PMID:Fructose breath hydrogen test--is it really a harmless diagnostic procedure? 1457 Nov 4

We present the case of a 17-year-old male who was diagnosed at birth with hereditary fructose intolerance (HFI). The patient complained of morning-time asthenia and post-prandial drowsiness despite a correct sleep pattern. The physical examination and biological check-up only showed severe vitamin C deficiency (<10 mol/l; normal range: 26-84). The patient's tiredness was attributed to this vitamin C deficiency, which is a frequent side-affect of the fructose-free diet. A change in diet associated with a supplementation in vitamin C was advised, with an increase in vegetable intake, principally avoiding carrots, onions, leaks and tinned sweet-corn. This case offers the opportunity for a review of this rare disease. Two kinds of fructose metabolism disorders (both autosomal recessive) are recognized: 1) essential fructosuria caused by a deficiency of fructokinase, which has no clinical consequence and requires no dietary treatment; 2) HFI, linked to three main mutations identified in aldolase B gene that may be confirmed by fructose breath test, intravenous fructose tolerance test, and genetic testing. In HFI, fructose ingestion generally induces gastro-intestinal (nausea and vomiting, abdominal pain, meteorism) and hypoglycemic symptoms. Fasting is well tolerated. If the condition remains undiagnosed, it leads to liver disease with hepatomegaly, proximal tubular dysfunction, and slow growth and weight gain. In conclusion, endocrinologists should be aware of this rare metabolic disease in order to provide careful follow-up, particularly important when the patient reaches adulthood. Moreover, hypoglycemia induced by fructose absorption, unexplained liver disease, irritable bowel syndrome or familial gout in an adult is suggestive of the diagnosis.
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PMID:Doctor, my son is so tired... about a case of hereditary fructose intolerance. 1803 30

Hereditary fructose intolerance (HFI) is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting, abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to IV fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.
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PMID:Adult hereditary fructose intolerance. 1945 88

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a mutation in the aldolase B gene. HFI patients exhibit nausea, vomiting, abdominal pain, hypoglycemia, and elevated liver enzymes after dietary fructose exposure. Chronic exposure might lead to failure to thrive, liver failure, renal failure, and, eventually, death. HFI usually manifests in infants when they are being weaned off of breastmilk. Because HFI has an excellent prognosis when patients maintain a strict restrictive diet, some patients remain undiagnosed due to the voluntary avoidance of sweet foods. In the past, HFI was diagnosed using a fructose tolerance test, liver enzyme assays or intestinal biopsy specimens. Currently, HFI is diagnosed through the analysis of aldolase B mutations. Here, HFI was diagnosed in a 41-year-old woman who complained of sweating, nausea, and vomiting after consuming sweets. She had a compound heterozygous mutation in the aldolase B gene; gene analysis revealed pathogenic nonsense (c.178C>T, p.Arg60Ter) and frameshift (c.360_363delCAAA, p.Asn120LysfsTer32) variants. This is the first report of a Korean HFI patient diagnosed in adulthood.
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PMID:Hereditary Fructose Intolerance Diagnosed in Adulthood. 3302 43