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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of glucose-galactose malabsorption in an 18-month-old Saudi girl is presented. She had associated bilateral renal stones with impaired renal function. Dietary therapy improved her malabsorption and the renal stones were cleared by extracorporeal shortwave lithotripsy.
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PMID:Glucose-galactose malabsorption with renal stones in a Saudi child. 128 51

After the administration of a 5% glucose-water solution that contained tracer amounts of the stable nonradioactive isotope 13C, breath samples were collected from five children with congenital glucose-galactose malabsorption and five with severe small bowel villous atrophy and chronic diarrhea. The 13CO2 breath test curves of the children with the congenital malabsorption and chronic diarrhea were compared with each other and with those from three healthy children and four infants with severe malnutrition but no diarrhea. The breath test curves from the children with glucose-galactose malabsorption and from those with diarrhea were significantly different from those of the other two groups, a finding consistent with impairment of glucose absorption. The [13C]glucose breath test clearly identified the children with severe glucose malabsorption. Further studies are required to determine whether less severe cases of carbohydrate malabsorption also can be identified using the parameters described in our study.
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PMID:A carbon-13 breath test to characterize glucose absorption and utilization in children. 262 35

The authors report a new case of glucose-galactose malabsorption. The particular features of this neonatal life-threatening refractory diarrhea are recalled. The dietetic management which permits a normal growth and psycho-intellectual development is described. The pathophysiological mechanisms of this malabsorption is elucidated from a review of the literature which specifies the autosomal, recessive mode of inheritance.
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PMID:[A new case of glucose-galactose malabsorption]. 380 42

Approximately 20 inherited disorders of kidney transport occurring in man have so far been defined. Most of these diseases have characteristic clinical profiles. They can be divided into four groups: 1) the amino acid transport mutations which include the cystinurias, hyperdibasicaminoaciduria, Joseph syndrome, Hartnup disease, and the methionine malabsorption syndrome: 2) the sugar transport mutations characterized by glucose (renal glucosuria), and glucose-galactose malabsorption; 3) the electrolyte and water transport disorders, among which are familial hypophosphatemic rickets, vitamin D-dependent rickets, pseudohypoparathyroidism, proximal and distal renal tubular acidosis, and nephrogenic diabetes insipidus; and 4) the "mixed" kidney transport mutations such as the "Busby", Fanconi, Lowe, Luder-Sheldon syndromes, and glucoglycinuria.
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PMID:Clinical phenotypes in kidney transport disorders. 437 65

Congeneeital glucose-galactose malabsorption is a rare clinical entity transmitted by autossomic recessive gen. The defect is in the small intestinal active transport system which is shared by glucose and galactose. Diarrhea and failure to thrive from the first week of life are the prominent symptoms. We report two sibs from consaguineous parents with diarrhea and failure to thrive since they were born. Both children had glucose and galactose malabsorption but tolerated well formula containing fructose as the only source of carbohydrate. They showed flat blood glucose curves when tested with glucose and galactose loads but normal increments of the sugar blood levels with fructose load. The small intestinal biopsy performed in both patients revealed normal villous pattern. When put under a diet containing fructose as the only source of carbohydrate, both patients had their symptoms subsided and reassumed the normal pattern of growth.
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PMID:[Congential malabsorption of glucose and galactose in 2 brothers]. 718 24

Five patients with sucrase-isomaltase deficiency, and one patient with primary glucose-galactose malabsorption had no increases in breath hydrogen excretion after oral sucrose or glucose. Anaerobic incubation with sugars of stool suspensions from 5 patients with primary sugar malabsorption produced by trace of hydrogen (17 microliter) in only one, while those from 13 or 14 controls produced a mean hydrogen volume of 640 microliter under similar conditions. Altered bacterial metabolism is a probable explanation. Breath hydrogen excretion did increase appreciably in 2 of these patients after oral lactulose showing that hydrogen excretion may vary according to the substrate. Therefore, observation of breath hydrogen excretion after lactulose is not recommended as a means of predicting false-negative breath tests with other sugars. The hydrogen breath test is not a reliable mean of diagnosing primary sugar malabsorption in children.
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PMID:Failure of the hydrogen breath test to detect pulmonary sugar malabsorption. 725 58

A simple test is described for the diagnosis of monosaccharide malabsorption in infancy caused by a congenital defect of glucose and galactose transport. Increased hydrogen (H2) excretion in expired air after ingestion of sugar was used to diagnose this condition in an infant with severe diarrhoea after breast feeding. Abnormal amounts of H2 were excreted after oral administration of glucose and galactose, but not after fructose. A carbohydrate free diet supplemented with fructose resulted in rapid weight gain and disappearance of diarrhoea. The diagnosis of glucose-galactose malabsorption was confirmed by 14C-glucose transport studies on a jejunal mucosal biopsy specimen. These findings indicate that interval breath H2 estimation in mixed expired air is a non-invasive, reliable procedure for detection of monosaccharide malabsorption in infancy.
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PMID:Interval breath hydrogen test in glucose-galactose malabsorption. 731 38

Pathogenesis, clinical features and diagnosis of malabsorption syndrome caused by membrane transporter abnormality of absorptive epithelial cells, such as glucose-galactose malabsorption or inherited amino acid transporter abnormality, are reviewed in this paper. It is rare for us to examine the patients with these diseases, but they are important for study of mechanisms of membrane digestion and membrane transporter in absorptive epithelial cells. Recent advances in molecular biology or genetics have made us details for the etiology of these diseases and may result in the development for new therapy.
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PMID:[Malabsorption syndrome due to membrane transporter abnormality in absorptive epithelial cells]. 890 37

We report an association of renal tubular acidosis (RTA) in two children with glucose-galactose malabsorption (GGM), who were found to have nephrocalcinosis. Although GGM has been reported previously with nephrocalcinosis, this report is the first to show that renal tubular acidosis could explain the coexistence of nephrocalcinosis in patients with glucose galactose malabsorption.
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PMID:Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis. 1601 May 97

A number of clinical conditions are caused by disorders affecting the mucosal lining of the gastrointestinal tract. Some patients suffer from a loss of mucosal surface area due to congenital defects or due to surgical resections ("short bowel syndrome"). Other patients have inborn or acquired defects of certain mucosal functions (e.g., glucose-galactose malabsorption, bile acid malabsorption). Many patients with these mucosal disorders could be more effectively treated if healthy mucosa were available in larger quantities as a replacement or functional supplement. We therefore developed methods to transplant mucosal stem cells from one part of the intestine to another and to make bioengineered intestinal mucosa. We generated an animal model of bile acid malabsorption using rats that underwent resection of the distal 25% of their small intestine (ileum). This resulted in significant losses of bile acids with the fecal excretions in these animals. We subsequently harvested ileal stem cell clusters from neonatal donors, removed the mucosa from a segment of proximal intestine (jejunum), and implanted the stem cell clusters into the debrided segment of jejunum. After four weeks, the animals had developed a functional "neomucosa." We inserted the "neo-ileal" segment into continuity as a substitute ileum. Postoperative measurements of fecal bile acid excretion showed that we were able to reverse the malabsorption syndrome in this model. This was the first reported neo-mucosa-based treatment of a malabsorption syndrome in vivo. We subsequently studied different biodegradable PGA and PLLA scaffoldings to generate bioengineered intestinal mucosa. We implanted these materials into omentum of rats and were able to identify a PGA/PLLA hybrid material on which engraftment rates of 36% of the available surface area could be achieved. Most recently, we developed a novel technique that permits direct observation of cell-biomaterial interactions after implantation into omentum or intestine in vivo. This method will help to optimize engraftment conditions for stem cell clusters on biomaterials.
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PMID:To make a new intestinal mucosa. 1660 91


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