malabsorption syndromes


Summary: General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.

Top Publications

  1. Boldrini R, Biselli R, Bosman C. Chylomicron retention disease--the role of ultrastructural examination in differential diagnosis. Pathol Res Pract. 2001;197:753-7 pubmed
    ..together with clinical aspects and laboratory measurements. In this study, we describe the histological and ultrastructural aspects observed in three pediatric cases of CRD. ..
  2. Cefalù A, Calvo P, Noto D, Baldi M, Valenti V, Lerro P, et al. Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. Metabolism. 2010;59:463-7 pubmed publisher
    ..More studies are needed to understand the reasons of the phenotypic variability of the same molecular defect in the same family. ..
  3. Jones H, Butler R, Brooks D. Intestinal fructose transport and malabsorption in humans. Am J Physiol Gastrointest Liver Physiol. 2011;300:G202-6 pubmed publisher
    ..Understanding the relative roles of these transporters in humans will be crucial for establishing a mechanistic basis for fructose malabsorption in gastrointestinal patients. ..
  4. Rao S, Attaluri A, Anderson L, Stumbo P. Ability of the normal human small intestine to absorb fructose: evaluation by breath testing. Clin Gastroenterol Hepatol. 2007;5:959-63 pubmed
    ..Breath samples measured for H2 and CH4 concentration at 30-minute intervals and for 3 hours will detect most subjects with fructose malabsorption. ..
  5. Valeur J, Morken M, Norin E, Midtvedt T, Berstad A. Carbohydrate intolerance in patients with self-reported food hypersensitivity: comparison of lactulose and glucose. Scand J Gastroenterol. 2009;44:1416-23 pubmed publisher
    ..Levels of SCFAs, lactate and PGE(2) in rectal dialysates could not explain the fermentation-associated hypersensitivity. ..
  6. Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, et al. A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. Blood. 2008;112:2055-61 pubmed publisher
    ..These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport. ..
  7. Zhao R, Min S, Wang Y, Campanella E, Low P, Goldman I. A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis. J Biol Chem. 2009;284:4267-74 pubmed publisher
  8. Hauck F, Tanner S, Henker J, Laass M. Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN. Eur J Pediatr. 2008;167:671-5 pubmed
    ..Diagnosis should be confirmed genetically to avoid further invasive diagnostics, administer proper lifelong treatment and offer genetic counselling. ..
  9. Namour F, Dobrovoljski G, Chery C, Audonnet S, Feillet F, Sperl W, et al. Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Haematologica. 2011;96:1715-9 pubmed publisher
    ..Heterozygous carriers for c.742T and c.208-2G had no pathological signs. These results indicate that amnionless is essential for the correct luminal expression of cubilin in humans. ..

More Information


  1. Ouguerram K, Zair Y, Kasbi Chadli F, Nazih H, Bligny D, Schmitz J, et al. Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease). Arterioscler Thromb Vasc Biol. 2012;32:1520-5 pubmed publisher
    ..92 mg/kg/day) and the fractional catabolic rate was higher (0.38 and 0.29 versus 0.22±0.01 day(-1)). The low plasma Apo-B100 and Apo-AI concentrations in the patients with Anderson disease were mainly related to low rates of production. ..
  2. Georges A, Bonneau J, Bonnefont Rousselot D, Champigneulle J, Rabès J, Abifadel M, et al. Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). Orphanet J Rare Dis. 2011;6:1 pubmed publisher
    ..The PCSK9 variant, although reported to be associated with low levels of cholesterol, does not appear to exert any additional effect in this patient. The results provide further insight into the tissue-specific nature of AD/CMRD. ..
  3. Silvain M, Bligny D, Aparicio T, Laforet P, Grodet A, Peretti N, et al. Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. Clin Genet. 2008;74:546-52 pubmed publisher
    ..These results suggest that myolysis and other extraintestinal abnormalities can occur in AD/CMRD and that the clinical evaluation of patients should reflect this. ..
  4. Love A, Billett H. Obesity, bariatric surgery, and iron deficiency: true, true, true and related. Am J Hematol. 2008;83:403-9 pubmed
    ..Bariatric surgery patients require lifelong follow-up of hematological and iron parameters since iron deficiency and anemia may develop years after surgery. ..
  5. Peretti N, Sassolas A, Roy C, Deslandres C, Charcosset M, Castagnetti J, et al. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis. 2010;5:24 pubmed publisher
    ..The clinical guidelines proposed will helpfully lead to an earlier diagnosis and the prevention of complications. ..
  6. Bate J, Irving P, Barrett J, Gibson P. Benefits of breath hydrogen testing after lactulose administration in analysing carbohydrate malabsorption. Eur J Gastroenterol Hepatol. 2010;22:318-26 pubmed publisher
    ..It permits the duration of testing to be judged and provides information on possible mechanisms of FM. ..
  7. Levin Iaina N, Dinour D, Morduchowicz G, Ganon L, Holtzman E. Molecular study of proteinuria in patients treated with B?? supplements: do not forget megaloblastic anemia type 1. Nephron Clin Pract. 2011;118:c67-71 pubmed publisher
    ..We also discuss the questionable significance of antiproteinuric treatment for these patients. ..
  8. Min S, Oh S, Karp G, Poncz M, Zhao R, Goldman I. The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption. J Pediatr. 2008;153:435-7 pubmed publisher
  9. Beech C, Liyanarachchi S, Shah N, Sturm A, Sadiq M, de la Chapelle A, et al. Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities. Orphanet J Rare Dis. 2011;6:74 pubmed publisher
    ..Thus, rare founder mutations may cause a substantial number of cases, even among diverse ethnicities not usually thought to be related. ..
  10. Kyaw M, Mayberry J. Fructose malabsorption: true condition or a variance from normality. J Clin Gastroenterol. 2011;45:16-21 pubmed publisher
    ..This low level may be difficult to exclude from the daily diet, resulting in symptoms of fructose malabsorption. ..
  11. Von Drygalski A, Andris D. Anemia after bariatric surgery: more than just iron deficiency. Nutr Clin Pract. 2009;24:217-26 pubmed publisher
  12. Ziegler O, Sirveaux M, Brunaud L, Reibel N, Quilliot D. Medical follow up after bariatric surgery: nutritional and drug issues. General recommendations for the prevention and treatment of nutritional deficiencies. Diabetes Metab. 2009;35:544-57 pubmed publisher
  13. Watkins D, Rosenblatt D. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet. 2011;157C:33-44 pubmed publisher
    ..Two other disorders, haptocorrin deficiency and transcobalamin receptor deficiency, have been described, but it is not clear that they have any consistent clinical phenotype. ..
  14. Gräsbeck R, Tanner S. Juvenile selective vitamin B?? malabsorption: 50 years after its description-10 years of genetic testing. Pediatr Res. 2011;70:222-8 pubmed publisher
    ..Clinical awareness must include attention to ethnicity, a sensitive topic but effective for fast diagnosis. The treatment with monthly parenteral Cbl for life offers a simple and cost-effective solution once proper diagnosis is made. ..
  15. Fyfe J, Hemker S, Venta P, Fitzgerald C, Outerbridge C, Myers S, et al. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs. Mol Genet Metab. 2013;109:390-6 pubmed publisher
    ..The border collie disorder indicates that a CUBN mutation far C-terminal from the intrinsic factor-cobalamin binding site can abrogate receptor expression and cause Imerslund-Gräsbeck syndrome...
  16. Folope V, Coeffier M, Dechelotte P. [Nutritional deficiencies associated with bariatric surgery]. Gastroenterol Clin Biol. 2007;31:369-77 pubmed
    ..The case by case correction of these deficiencies is mandatory, and their systematic prevention should be evaluated. ..
  17. Yadav P, Das P, Mirdha B, Gupta S, Bhatnagar S, Pandey R, et al. Current spectrum of malabsorption syndrome in adults in India. Indian J Gastroenterol. 2011;30:22-8 pubmed publisher
    ..Tropical sprue was considered to be the most important cause of malabsorption in adults in India. However, several reports indicate that celiac disease is now recognized more frequently...
  18. Tanner S, Sturm A, Baack E, Liyanarachchi S, de la Chapelle A. Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. Orphanet J Rare Dis. 2012;7:56 pubmed publisher
    ..IGS and IFD differ in that IGS usually presents with proteinuria, which is not observed in IFD. The genetic heterogeneity and numerous differential diagnoses make clinical assessment difficult...
  19. Zhao R, Min S, Qiu A, Sakaris A, Goldberg G, Sandoval C, et al. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood. 2007;110:1147-52 pubmed
  20. Trehan I, Shulman R, Ou C, Maleta K, Manary M. A randomized, double-blind, placebo-controlled trial of rifaximin, a nonabsorbable antibiotic, in the treatment of tropical enteropathy. Am J Gastroenterol. 2009;104:2326-33 pubmed publisher
    ..Rifaximin had no effect on the tropical enteropathy of 3-5-year-old Malawian children, suggesting that small-bowel bacterial overgrowth is not an important etiological factor in this condition. ..
  21. Guilmeau S, Niot I, Laigneau J, Devaud H, Petit V, Brousse N, et al. Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes. Histochem Cell Biol. 2007;128:115-23 pubmed
    We investigated, for the first time, the expression of I- and L-FABP in two very rare hereditary lipid malabsorption syndromes as compared with normal subjects...
  22. Kindel T, Lee D, Tso P. The mechanism of the formation and secretion of chylomicrons. Atheroscler Suppl. 2010;11:11-6 pubmed publisher
    ..The physiologic role of apo B-48 in the intestine is presented as well as clinical disease of chylomicron metabolism, specifically abetalipoproteinemia and Anderson's disease. ..
  23. Dutta A, Balekuduru A, Chacko A. Spectrum of malabsorption in India--tropical sprue is still the leader. J Assoc Physicians India. 2011;59:420-2 pubmed
    ..Tropical Sprue however continues to be the commonest cause as in the past. ..
  24. Munoz M, Botella Romero F, Gómez Ramírez S, Campos A, García Erce J. Iron deficiency and anaemia in bariatric surgical patients: causes, diagnosis and proper management. Nutr Hosp. 2009;24:640-54 pubmed
    ..New IV preparations, such ferric carboxymaltose, are safe, easy to use and up to 1000 mg can be given in a single session, thus providing an excellent tool to avoid or treat iron deficiency in this patient population. ..
  25. Qiu A, Jansen M, Sakaris A, Min S, Chattopadhyay S, Tsai E, et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell. 2006;127:917-28 pubmed
    ..However, the current study establishes that a major function of this gene product is proton-coupled folate transport required for folate homeostasis in man, and we have thus amended the name to PCFT/HCP1. ..
  26. Fernández Bañares F, Rosinach M, Esteve M, Forné M, Espinós J, Maria Viver J. Sugar malabsorption in functional abdominal bloating: a pilot study on the long-term effect of dietary treatment. Clin Nutr. 2006;25:824-31 pubmed
    ..A malabsorbed sugar-free diet might be a long-term effective therapy in a high percentage of patients. Further controlled clinical trials are warranted. ..
  27. Beyer P, Caviar E, McCallum R. Fructose intake at current levels in the United States may cause gastrointestinal distress in normal adults. J Am Diet Assoc. 2005;105:1559-66 pubmed
    ..Because breath hydrogen peaks occurred at 90 to 114 minutes and were highly correlated with 180-minute breath hydrogen AUC, the use of peak hydrogen measures may be considered to shorten the duration of the exam. ..
  28. Papas K, Kalbfleisch J, Mohon R. Bioavailability of a novel, water-soluble vitamin E formulation in malabsorbing patients. Dig Dis Sci. 2007;52:347-52 pubmed
    ..09). In conclusion, this novel, water-soluble formulation showed a marked and statistically significant increase in absorption of gamma-tocopherol in malabsorbing patients with CF compared with an oil-based formulation. ..
  29. Ladas S, Grammenos I, Tassios P, Raptis S. Coincidental malabsorption of lactose, fructose, and sorbitol ingested at low doses is not common in normal adults. Dig Dis Sci. 2000;45:2357-62 pubmed
    ..In conclusion, the frequency of coincidental malabsorption of lactose, fructose, and sorbitol and intolerance to these sugars is not common, when normal adults ingest them at low doses. ..
  30. Johlin F, Panther M, Kraft N. Dietary fructose intolerance: diet modification can impact self-rated health and symptom control. Nutr Clin Care. 2004;7:92-7 pubmed
    ..DFI can cause significant gastrointestinal symptoms that may not respond to medications or surgical interventions. Symptoms can improve and self-rated health does improve in DFI patients willing to adhere to a low fructose diet. ..
  31. Kozyraki R, Fyfe J, Kristiansen M, Gerdes C, Jacobsen C, Cui S, et al. The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. Nat Med. 1999;5:656-61 pubmed
    ..The physiological relevance of the cubilin-apoA-I interaction was further emphasized by urinary apoA-I loss in some known cases of functional cubilin deficiency. Therefore, cubilin is a receptor in epithelial apoA-I/HDL metabolism. ..
  32. Valera Mora M, Simeoni B, Gagliardi L, Scarfone A, Nanni G, Castagneto M, et al. Predictors of weight loss and reversal of comorbidities in malabsorptive bariatric surgery. Am J Clin Nutr. 2005;81:1292-7 pubmed
    ..Initial fat mass, but not residual intestinal length, is the strongest predictor of weight loss after BPD. ..
  33. Ghoshal U, Ghoshal U, Das K, Misra A. Utility of hydrogen breath tests in diagnosis of small intestinal bacterial overgrowth in malabsorption syndrome and its relationship with oro-cecal transit time. Indian J Gastroenterol. 2006;25:6-10 pubmed
    ..GHBT and LHBT are highly specific but insensitive for diagnosis of SIBO in MAS; OCTT is longer in patients with MAS and SIBO than in those without. ..
  34. Al Alami J, Tanner S, Tayeh M, de la Chapelle A, El Shanti H. Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan. Saudi Med J. 2005;26:1061-4 pubmed
    ..Molecular testing for this specific mutation in cases of Middle Eastern origin is a valuable tool for presymptomatic diagnosis, carrier identification and perhaps prenatal diagnosis. ..
  35. Shepherd S, Gibson P. Fructose malabsorption and symptoms of irritable bowel syndrome: guidelines for effective dietary management. J Am Diet Assoc. 2006;106:1631-9 pubmed
    ..01), as was improvement in individual symptoms (P<0.01 for all symptoms). This comprehensive fructose malabsorption dietary therapy achieves a high level of sustained adherence and good symptomatic response. ..
  36. Bala L, Nagana Gowda G, Ghoshal U, Misra A, Bhandari M, Khetrapal C. 1H NMR spectroscopic method for diagnosis of malabsorption syndrome: a pilot study. NMR Biomed. 2004;17:69-75 pubmed
    ..The NMR method is simple and may be more accurate for the D-xylose absorption test. Colorimetry was found to be inferior as compared with NMR due to its low specificity. ..
  37. Gräsbeck R. Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet J Rare Dis. 2006;1:17 pubmed
    ..In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency. ..
  38. Battersby I, Giger U, Hall E. Hyperammonaemic encephalopathy secondary to selective cobalamin deficiency in a juvenile Border collie. J Small Anim Pract. 2005;46:339-44 pubmed
  39. Geller J, Kronn D, Jayabose S, Sandoval C. Hereditary folate malabsorption: family report and review of the literature. Medicine (Baltimore). 2002;81:51-68 pubmed
  40. Ranjan P, Ghoshal U, Aggarwal R, Pandey R, Misra A, Naik S, et al. Etiological spectrum of sporadic malabsorption syndrome in northern Indian adults at a tertiary hospital. Indian J Gastroenterol. 2004;23:94-8 pubmed
    ..Tropical sprue, celiac disease and Crohn's disease are common causes of MAS in Indian adults. Inappropriate anti-tubercular treatment is common in them and needs to be discouraged. ..
  41. Katz M, Lee S, Cooper B. Vitamin B 12 malabsorption due to a biologically inert intrinsic factor. N Engl J Med. 1972;287:425-9 pubmed
  42. Lobo B, Casellas F, de Torres I, Chicharro L, Malagelada J. Usefulness of jejunal biopsy in the study of intestinal malabsorption in the elderly. Rev Esp Enferm Dig. 2004;96:259-64 pubmed
    ..Jejunal biopsy achieved an etiologic diagnosis in 20 patients. There were no cases of perforations or bleeding. jejunal biopsy is a useful and safe test for the etiologic diagnosis of intestinal malabsorption in elderly patients. ..
  43. Ghoshal U, Ghoshal U, Ranjan P, Naik S, Ayyagari A. Spectrum and antibiotic sensitivity of bacteria contaminating the upper gut in patients with malabsorption syndrome from the tropics. BMC Gastroenterol. 2003;3:9 pubmed
    ..tetracycline, p = ns). SIBO is common in patients with MAS due to various causes and quinolones may be the preferred treatment. This needs to be proved further by a randomized controlled trial. ..
  44. Goldstein R, Braverman D, Stankiewicz H. Carbohydrate malabsorption and the effect of dietary restriction on symptoms of irritable bowel syndrome and functional bowel complaints. Isr Med Assoc J. 2000;2:583-7 pubmed
    ..Dietary restriction of the offending sugar(s) should be implemented before the institution of drug therapy. ..
  45. Madsen J, Linnet J, Rumessen J. Effect of nonabsorbed amounts of a fructose-sorbitol mixture on small intestinal transit in healthy volunteers. Dig Dis Sci. 2006;51:147-53 pubmed
    ..0128). In healthy humans, malabsorption of small amounts of a fructose-sorbitol mixture accelerates small bowel transit. ..
  46. Strack van Schijndel R, Wierdsma N, van Heijningen E, Weijs P, De Groot S, Girbes A. Fecal energy losses in enterally fed intensive care patients: an explorative study using bomb calorimetry. Clin Nutr. 2006;25:758-64 pubmed
    ..In this clinical study on ICU patients with loose stools, malabsorption proved to be a frequently occurring and so far unrecognized problem, contributing strongly to negative energy balances in 1/3 of the patients. ..
  47. Ledochowski M, Widner B, Murr C, Sperner Unterweger B, Fuchs D. Fructose malabsorption is associated with decreased plasma tryptophan. Scand J Gastroenterol. 2001;36:367-71 pubmed
    ..Fructose malabsorption should be considered in patients with symptoms of depression and disturbances of tryptophan metabolism. ..
  48. Berriot Varoqueaux N, Aggerbeck L, Samson Bouma M, Wetterau J. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. Annu Rev Nutr. 2000;20:663-97 pubmed
    ..Unless treated, abetalipoproteinemic subjects develop gastrointestinal, neurological, ophthalmological, and hematological abnormalities...
  49. Rabkin R, Rabkin J, Metcalf B, Lazo M, Rossi M, Lehman Becker L. Nutritional markers following duodenal switch for morbid obesity. Obes Surg. 2004;14:84-90 pubmed
    ..In selected patients, additional iron and calcium supplementation are effective when indicated. ..
  50. Rossler J, Breitenstein S, Havers W. Late onset of Imerslund-Gräsbeck syndrome without proteinuria in four children of one family from the Lebanon. Eur J Pediatr. 2003;162:808-9 pubmed
  51. Gibson P, Newnham E, Barrett J, Shepherd S, Muir J. Review article: fructose malabsorption and the bigger picture. Aliment Pharmacol Ther. 2007;25:349-63 pubmed
  52. Bor M, Cetin M, Aytac S, Altay C, Nexo E. Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. Clin Chem. 2005;51:2151-5 pubmed
    ..Measurement of holo-TC after administration of vitamin B(12) is a promising approach for evaluating vitamin B(12) absorption. ..
  53. Jones B, Jones E, Bonney S, Patel H, Mensenkamp A, Eichenbaum Voline S, et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet. 2003;34:29-31 pubmed
    ..Our data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell. ..