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)

Using a double-lumen tube perfusion system, solutions of glucose (1.0, 2.5, and 5.0 g 100ml(-1)) have been perfused into the upper jejunum of 22 Zambian African subjects in order to study their glucose absorption kinetics. None of them had clinical evidence of malnutrition or intestinal disease. In 10 there was no evidence of an infective disease (;normal' group); seven had tuberculosis; five had acute bacterial infections. The mean serum albumin concentration was significantly lower in those with infections; the mean total and gamma-globulin concentrations were significantly higher in the tuberculosis group. There was good reproducibility in triplicate assessments of glucose and water absorption rates in the individual subjects. Despite a wide scatter, the mean glucose kinetic curves were significantly flatter in those with infections than in the normal group (p<0.02). There was a significant association between glucose and water absorption rates in the individuals. D-xylose absorption was estimated in 11 subjects and there was a significant correlation between that and the glucose absorption rate. Jejunal morphology (n=9) and disaccharidase concentrations (n=6) were normal for African subjects and there were no significant associations between either of those and the absorption rates. Galactose absorption kinetics have been studied in an additional four relatively normal Zambian Africans. This study suggests that systemic bacterial infections can produce malabsorption. This may be relevant to the weight loss in patients with pulmonary tuberculosis and also to the aetiology of kwashiorkor.
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PMID:Glucose absorption kinetics in Zambian African patients with and without systemic bacterial infections. 411 99

Cotransporters harness ion gradients to drive 'active' transport of substrates into cells, for example, the Na+/glucose cotransporter (SGLT1) couples sugar transport to Na+ gradients across the intestinal brush border. Glucose-Galactose Malabsorption (GGM) is caused by a defect in SGLT1. The phenotype is neonatal onset of diarrhea that results in death unless these sugars are removed from the diet. Previously we showed that two sisters with GGM had a missense mutation in the SGLT1 gene. The gene has now been screened in 30 new patients, and a heterologous expression system has been used to link the mutations to the phenotype.
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PMID:Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. 856 65

Glucose Galactose Malabsorption is a genetic disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Normally, lactose in milk is broken down into glucose and galactose by lactase, an ectoenzyme on the brush border, and the hexoses are transported into the cell by the Na+-glucose cotransporter SGLT1. The mutations causing the defect in sugar transport have been identified in patients from 33 kindreds, and functional studies have established how these mutations cause the disease.
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PMID:I. Glucose galactose malabsorption. 981 14

Secondary active glucose transport occurs by at least four members of the SLC5 gene family. This review considers the structure and function of two premier members, SGLT1 and SGLT2, and their role in intestinal glucose absorption and renal glucose reabsorption. Genetics disorders of SGLTs include Glucose-Galactose Malabsorption, and Familial Renal Glucosuria. SGLT1 plays a central role in Oral Rehydration Therapy used so effectively to treat secretory diarrhoea such as cholera. Increasing attention is being focused on SGLTs as drug targets for the therapy of diabetes.
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PMID:Active sugar transport in health and disease. 1722 66

Congenital Glucose Galactose malabsorption (CGGM) is a rare disorder with limited data from the Arab world. We report the first case of CGGM in Oman.B.S.A two years old female who presented with chronic osmotic diarrhea since birth with hypernatraemic dehydration. B.S was found to have Glucose Galactose Malabsorption based on clinical trial of ORS and elemental formula. Symptoms resolved on introduction of Carbohydrate free formula. The patient developed many complications while on TPN including rickets and nephrogenic diabetes insipidus. These complications have not been reported earlier in CGGM.
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PMID:Glucose Galactose Malabsorption complicated with Rickets and Nephrogenic Diabetes Insipidus. 2235 15

A three-day-old newborn girl presented with decreased feeding and dehydration. She was sick and in shock. She had renal impairment and hypernatremia. With the resumption of breast feeding, she developed watery stools and hypernatremia. Glucose-Galactose Malabsorption was suspected and confirmed by the presence of a likely pathogenic homozygous variant in SLC5A1.
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PMID:Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation. 3065 7