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)

Brown bowel syndrome is characterized by deposits of lipofuscin in the tunica muscularis of the small intestine. Its etiology is associated with chronic malabsorption resulting in a deficiency of vitamin E. This hypovitaminosis is believed to cause a mitochondrial myopathy secondary to loss of the antioxidant properties of vitamin E, which further worsens the malabsorption and leads to atonic, dilated segments of bowel. Current treatment options involve nutritional supplementation, surgical resection of the affected segments, and intestinal transplantation.
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PMID:Brown bowel syndrome: case report and review. 1657 47

Vitamin D is a hormone responsible for calcium homeostasis and essential for bone mineralization throughout the lifespan. Recent studies revealed a high prevalence of hypovitaminosis D among healthy adults and children, especially in the northern hemisphere, and a link between this condition and suboptimal bone health. Moreover, maintenance of what are today considered optimal vitamin D stores has not been achieved throughout the year with currently recommended daily intake for vitamin D. The prevalence of hypovitaminosis D is even higher among adults with inflammatory bowel disease (IBD), a situation that may be caused by malabsorption and gastrointestinal losses through an inflamed intestine, among other factors. In children with IBD, existing reports of vitamin D status are scarce. The relationship between vitamin D status and bone health, although well-established in healthy adults and children, has been controversial among adults and children with IBD, and the reasons for this have not been investigated to date. Studies in animal models of colitis and in vitro human studies support a role of vitamin D in the regulation of the immune system of the gut and the potential of vitamin D and its derivatives as therapeutic adjuncts in the treatment of IBD. This role of vitamin D has not been investigated with translational studies to date. Currently, there are no guidelines for monitoring vitamin D status, treating hypovitaminosis D, and maintaining optimal vitamin D stores in patients with IBD. These tasks may prove particularly difficult because of malabsorption and gastrointestinal losses that are associated with IBD.
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PMID:Report on the vitamin D status of adult and pediatric patients with inflammatory bowel disease and its significance for bone health and disease. 1711 91

Small intestinal bacterial overgrowth syndrome (SIBOS) means chronic recurrent diarrhea with malabsorption, intoxication and increased risk of endogenous infection. This syndrome are accompanied by increase of overall bacterial burden in biotope >10(5) CFU/ml in adults and >10(4) CFU/ml in children, emergence of different species of enterobacteria, bacteroides, clostridia and fusobacteria et al. in small intestine. Such characteristics of the syndrome allow to consider it as syndrome of disturbances of intestinal microflora (dysbacteriosis). Microecological changes are accompanied by B12 vitamin deficiency anemia, hypovitaminosis, protein deficiency, translocation of bacteria and their toxins from intestine in blood, emergence of endotoxinemia and possible generalization of infection. SIBOS is diagnosed by concentration of hydrogen in expiratory flow (lactulosa load test) or by bacteriological study of aspirate from proximal part of small intestine. Complex treatment includes containing lacto- and bifidobacteria probiotics and, in more severe cases, antimicrobial agents (vancomycine, metronidazole, aminoglycosides, amoxicillin clavulanate, tetracycline, and cephalosporines of 2nd generation) with following correction of disturbed microbiocenosis by different probiotics.
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PMID:[Microecological aspects of small intestinal bacterial overgrowth syndrome]. 1716 42

Familial hypobetalipoproteinemia (FHB) is a rare genetically heterogeneous disorder provoking abnormally low serum levels of apoprotein (apo) B, total cholesterol, and low-density lipoprotein (LDL-C). Patients carrying heterozygous mutations in the APOB (2p24) gene are usually asymptomatic, but homozygous mutations cause clinical disturbances as a result of intestinal fat malabsorption and fat-soluble vitamin deficiency. We present an asymptomatic boy, aged 8 years and 7 months, with low serum levels of apo-B, total cholesterol, triglyceride, LDL-C and very low-density lipoprotein (VLDL-C), as well as vitamin E deficiency. Three asymptomatic relatives also exhibited low apo-B, total cholesterol and LDL-C levels. The APOB (2p24) gene was fully sequenced, demonstrating a heterozygous mutation in exon 26 (G --> T) in all four members of this family. Familial genetic studies in FHB could be useful in the early detection and treatment of homozygous carriers.
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PMID:[Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene]. 1751 8

Castleman disease is a rare lymphoproliferative disorder of unclear etiology. It usually presents as localized enlarged lymph nodes in children. Surgical excision is curative in localized form. Clinical findings of malabsorption are rarely reported in the literature. Herein, we describe a 14-year-old girl who presented with anemia, failure to thrive, osteoporosis, zinc, and vitamin deficiency. She was diagnosed as localized mesenteric mixed type of Castleman disease. Her clinical findings improved after surgical excision of the mass.
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PMID:Localized abdominal Castleman disease masquerading as malabsorption syndrome. 1879 41

Many of the vitamin deficiency diseases have been almost completely eliminated in developed countries. Niacin deficiency is considered one of them. However, cases of pellagra are recently reported in West Europe, USA, Australia, and Japan in connection with chronic alcoholism, gastrointestinal malabsorption, and some medications. We report two cases of pellagra, manifesting as photosensitivity dermatoses with mental deterioration in chronic alcoholic abusers in the Mediterranean basin, the island of Crete in Greece. The report highlights the fact that all physicians should be alerted to photosensitivity dermatoses in alcoholics; early treatment with multiple vitamin therapy, including nicotinic acid should be initiated in these patients.
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PMID:The diagnostic importance of photosensitivity dermatoses in chronic alcoholism: report of two cases. 1909 53

Folates are members of the B-class of vitamins, which are required for the synthesis of purines and pyrimidines, and for the methylation of essential biological substances, including phospholipids, DNA, and neurotransmitters. Folates cannot be synthesized de novo by mammals; hence, an efficient intestinal absorption process is required. Intestinal folate transport is carrier-mediated, pH-dependent and electroneutral, with similar affinity for oxidized and reduced folic acid derivatives. The various transporters, i.e. reduced folate carrier, proton-coupled folate transporter, folate-binding protein, and organic anion transporters, are involved in the folate transport process in various tissues. Any impairment in uptake of folate can lead to a state of folate deficiency, the most prevalent vitamin deficiency in world, affecting 10% of the population in the USA. Such impairments in folate transport occur in a variety of conditions, including chronic use of ethanol, some inborn hereditary disorders, and certain diseases. Among these, ethanol ingestion has been the major contributor to folate deficiency. Ethanol-associated folate deficiency can develop because of dietary inadequacy, intestinal malabsorption, altered hepatobiliary metabolism, enhanced colonic metabolism, and increased renal excretion. Ethanol reduces the intestinal and renal uptake of folate by altering the binding and transport kinetics of folate transport systems. Also, ethanol reduces the expression of folate transporters in both intestine and kidney, and this might be a contributing factor for folate malabsorption, leading to folate deficiency. The maintenance of intracellular folate homeostasis is essential for the one-carbon transfer reactions necessary for DNA synthesis and biological methylation reactions. DNA methylation is an important epigenetic determinant in gene expression, in the maintenance of DNA integrity and stability, in chromosomal modifications, and in the development of mutations. Ethanol, a toxin that is consumed regularly, has been found to affect the methylation of DNA. In addition to its effect on DNA methylation due to folate deficiency, ethanol could directly exert its effect through its interaction with one-carbon metabolism, impairment of methyl group synthesis, and affecting the enzymes regulating the synthesis of S-adenosylmethionine, the primary methyl group donor for most biological methylation reactions. Thus, ethanol plays an important role in the pathogenesis of several diseases through its potential ability to modulate the methylation of biological molecules. This review discusses the underlying mechanism of folate malabsorption in alcoholism, the mechanism of methylation-associated silencing of genes, and how the interaction between ethanol and folate deficiency affects the methylation of genes, thereby modulating epigenome stability and the risk of cancer.
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PMID:New perspectives on folate transport in relation to alcoholism-induced folate malabsorption--association with epigenome stability and cancer development. 1929 60

The major and most well-known function of vitamin D is to maintain calcium and phosphorus homeostasis and promote bone mineralization. However, recent evidence suggests that vitamin D may be important for a variety of nonskeletal outcomes. The review synthesizes the available evidence for the role of vitamin D in skeletal health as well as its novel roles in medical conditions such as muscle function, falls, immunity, glucose homeostasis, and cardiovascular diseases. The article reviews methods for assessing vitamin D status and suggests strategies to restore vitamin D status in patients requiring enteral or parenteral nutrition who are at particularly high risk of hypovitaminosis D. Screening for hypovitaminosis D with plasma total 25-hydroxyvitamin D should be a routine part of the care of the patient requiring enteral or parenteral nutrition. Restoration of optimal vitamin D status with high-dose supplemental vitamin D is required in most cases, whereas exposure to sunlight or an ultraviolet B radiation-emitting device is most effective in patients with severe malabsorption or those requiring long-term parenteral therapy. Given the emerging role of vitamin D for a variety of acute and chronic conditions, the optimal vitamin D status in acutely ill patients as well as in patients requiring long-term nutrition therapy warrants further investigation.
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PMID:Role of vitamin D in adults requiring nutrition support. 1986 30

Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had suboptimal levels (<30 ng/ml) of 25-hydroxyvitamin-D (25(OH)D) despite supplementation of vitamin D and/or vitamin D + calcium based on WHO standards in 24/26 (92.3%) patients. The restrictive nature of the GSD I diet, metabolic derangements and intestinal malabsorption seen in GSD I are possible reasons for the observed hypovitaminosis D. Our results suggest that measurement of 25(OH)D should be considered in the routine evaluation of GSD I patients.
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PMID:Hypovitaminosis D in glycogen storage disease type I. 2006 Mar 50

Vitamin D was discovered and had its chemical structure described in the early years of the last century. Although classified as a nutrient because it was found in small quantities in butter, it soon became clear that exposure of skin to sunlight, supplies most of the vitamin D necessary for good health in human beings. Vitamin D (D3 or cholecalciferol) synthesis in the skin is extremely rapid and remarkably robust despite the complexity of the mechanisms involved. However, a number of factors related to latitude location, season, and skin characteristics can interfere with the photoproduction of vitamin D. The 2 forms of vitamin D (D3 or D2-ergocalciferol) are biologically inactive and require activation in the liver and kidney. The product of the first hydroxylation of vitamin D in the liver, 25-hydroxyvitamin D (25(OH)D), is the marker of vitamin D status. Hypovitaminosis D (serum 25(OH)D, <30 ng/mL) is highly prevalent in the general population, and patients with chronic kidney disease seem to be at higher risk for the development of hypovitaminosis D. It is believed that, besides the traditional factors, protein losses, gastrointestinal malabsorption, and defective skin synthesis of vitamin D might contribute to the elevated number of patients with suboptimal level of vitamin D status.
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PMID:Vitamin D biology: from the discovery to its significance in chronic kidney disease. 2119 32


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