Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bile salt absorption, as determined by the faecal excretion in i.v. injected 14C-cholic acid (FBS) was studied in 13 ileostomy patients before and after conversion to Kock's continent ileostomy reservoir. The result was compared with that obtained in 8 ileostomy patients in whom about 50 cm of the terminal ileum has also been removed. As compared with 16 healthy controls, FBS was moderately increased in the conventional ileostomy patients, but still within normal limits. After conversion to ileostomy reservoir all patients had pathological FBS, although less severe than in the ileostomy patients with ileal resection. Bacterial contamination probably contributes more than the structural mucosal changes to the bile malabsorption in the pouch, whereas reduced mucosal surface and short small-intestinal transit time are the main causes of malabsorption in ileostomy patients in whom an appreciable amount of the terminal ileum has been resected.
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PMID:Faecal excretion of intravenously injected 14C-cholic acid in patients with conventional ileostomy and in patients with continent ileostomy reservoir. 49 57

The fraction of faecal activity (FBS) excreted after intravenous administration of 14C-labelled cholic acid was measured in 20 patients with gastrointestinal symptoms (diarrhoea, abdominal pains, malabsorption and rectal haemorrhage) after pelvic irradiation. An FBS excretion of 52 +/- 16 per cent (mean +/- SD) was found in 13 patients with diarrhoea and 18 +/- 12 per cent in 7 patients without diarrhoea. In normals the excretion is not above 18 per cent. Bile salt malabsorption appears to be an important factor in the pathogenesis of diarrhoea in these patients.
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PMID:Bile salt malabsorption in the radiation syndrome. 71 44

There are two mechanisms for glucose transport across cell membranes. In the intestine and renal proximal tubule, glucose is transported against a concentration gradient by a secondary active transport mechanism in which glucose is cotransported with sodium ions. In all other cells, glucose transport is mediated by one or more of the members of the closely related GLUT family of glucose transporters. The pattern of expression of the GLUT transporters in different tissues is related to the different roles of glucose metabolism in different tissues. Primary defects in glucose transport all appear to be extremely rare and not all possible deficiencies have been identified. Deficiency of the secondary active sodium/glucose transporters result in glucose/galactose malabsorption or congenital renal glycosuria. GLUT1 deficiency produces a seizure disorder with low glucose concentration in cerebrospinal fluid and GLUT2 deficiency is the basis of the Fanconi-Bickel syndrome, which resembles type I glycogen storage disease.
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PMID:Glucose transporters: structure, function and consequences of deficiency. 1086 40

We report a total of 23 novel mutations of the SLC2A2 ( GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular genetic analysis has now been performed in more than 50% of the 109 FBS cases from 88 families that we have been able to locate world-wide since the original report in 1949. In these 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice-site) have been detected. Thus, our results confirm that mutations of SLC2A2 are the basic defect in patients with FBS. Mutations of SLC2A2 were detected in historical FBS patients in whom some of the characteristic clinical features (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy) and the effect of therapy were described for the first time. Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration. No single prevalent SLC2A2 mutation was responsible for a significant number of cases. In a high percentage (74%) of FBS patients, the mutation is homozygous, so we conclude that the prevalence of SLC2A2 mutations is relatively low in most populations. No mutational hot spots within SLC2A2 or even within homologous sequences among the genes for facilitative glucose transporters were detected.
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PMID:The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. 1181 Feb 92