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)

A baby girl, born prematurely and with Down's syndrome, is hospitalized at the age of 51 days for a megaloblastic anemia. The anemia was caused by a selective malabsorption of vitamin B12 (Imerslund's syndrome), even in presence of intrinsic factor. The pathogenesis of different causes of vitamin B12 deficiency is discussed and the favourable development of this case after four years of treatment is shown.
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PMID:[Congenital malabsorption of vitamin B12 (Imerslund's syndrome) in a premature girl with Down's syndrome (author's transl)]. 15 16

Many data suggest that patients with Down's syndrome (DS) suffer from digestive malabsorption. A fecal test of absorption (search for undigested meat fibers following the ingestion of a measured diet) was conducted in 4 patients with DS. The results point to malabsorption in these patients and support the hypothesis of malabsorption in DS. The etiology of probable malabsorption in DS is discussed. Data are presented suggesting that chronic malnutrition caused by malabsorption could be the cause of the neuropathologic signs of Alzheimer's disease occurring at or slightly before the fourth decade in all patients with DS.
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PMID:A study of digestive absorption in four cases of Down's syndrome. Down's syndrome, malnutrition, malabsorption, and Alzheimer's disease. 213 42

Malabsorption appears common in patients with Down syndrome. We determined gliadin antibodies (IgG and IgA) in 78 children (aged 1-19 years) with Down syndrome and found increased IgG levels in 23, increased IgA levels in 2 and both increased IgG and IgA levels in 6 patients. Two patients with increased IgG and IgA had coeliac disease, two others had no mucosal abnormalities. There is an increased frequency of gliadin antibodies in patients with Down syndrome. In addition, an increased incidence of coeliac disease in this population cannot be excluded.
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PMID:Prevalence and diagnostic significance of gliadin antibodies in children with Down syndrome. 214 27

We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0-14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive improvement of growth in children with DS, as shown in other recent reports. The purpose of this study was also to create a "normal growth pattern" useful to evaluate DS children and also to diagnose early pathologic conditions affecting growth, such as autoimmune diseases.
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PMID:Growth charts of Down syndrome in Sicily: evaluation of 382 children 0-14 years of age. 214 77

A 3 year old girl with Down's syndrome became lethargic and withdrawn, and investigations showed a specific malabsorption of vitamin B12 without proteinuria.
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PMID:Specific malabsorption of vitamin B12 in Down's syndrome. 294 Sep 80

Recurrent diarrhoea and weight loss in many adult patients with Down's syndrome (DS), initiated a search for malabsorption based on determination of serum IgG and IgA antibody levels to dietary antigens. The results were compared with measurements of autoantibodies and serum zinc levels. DS patients had increased IgG and IgA activities to gluten proteins, casein and ovalbumin compared with an age- and sex-matched group of other mentally retarded patients in the same institution. Intestinal biopsy was performed in six of the 38 patients; one had total and one partial villous atrophy. Serum zinc was significantly lower in DS patients (median 14.7 mumol/l, range 5.5-20 mumol/l) than in the controls (median 16.4 mumol/l, range 12.7-19.5 mumol/l). DS patients with increased IgA activity to gluten weighed less and had lower concentrations of zinc in serum than DS patients with normal IgA activity. Twenty-eight per cent of the DS patients had autoantibodies to the thyroid gland. Our results suggest intestinal malfunction in DS, perhaps related to a defect of immune regulation caused by reduced levels of zinc in serum.
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PMID:Immunological studies of patients with Down's syndrome. Measurements of autoantibodies and serum antibodies to dietary antigens in relation to zinc levels. 297 34

A standard xylose absorption test was carried out in 14 people with Down's syndrome (DS) and in 14 age-matched mentally deficient controls; a further 30 people with DS were similarly investigated. Mentally deficient people as a group were found to have impaired xylose absorption, the matched DS subjects having a significantly reduced xylose absorption (P less than 0.001) when compared to the mentally deficient controls. Ninety percent of the DS subjects had a xylose excretion below the normal range. At present it is not possible to identify the cause of the malabsorption but it is highly likely that the malabsorption plays a role in a number of the vitamin and mineral deficiencies found in people with DS.
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PMID:Xylose absorption in Down's syndrome. 316 30

The association of celiac disease with Down's syndrome is described in two patients who presented with features of the malabsorption syndrome. The diagnosis was readily made by peroral jejunal mucosal biopsy. Both patients responded clinically to dietary gluten withdrawal and one patient demonstrated a recrudescence of symptoms and reappearance of jejunal mucosal atrophy upon rechallenge with dietary gluten. Genetic considerations in the etiology of both disorders are discussed.
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PMID:Celiac sprue in Down's syndrome: considerations on a pathogenetic link. 622 57

The author proposes an etiological hypothesis for Alzheimer's disease (malnutrition with or without malabsorption); this may explain clinical and biological phenomena which occur in this disease. A search through the literature revealed that all people suffering from Down's syndrome (and who all develop Alzheimer's disease from forty years of age) also suffer from malnutrition. This hypothesis may explain the anatomical and neurobiochemical perturbations and the inefficacy of choline. Consequent nutritional treatment of the disease is proposed.
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PMID:Alzheimer's disease and malnutrition: a new etiological hypothesis. 624 Dec 89

Down's Syndrome patients are known to be of short stature, prone to infections, autoimmune disease, hypothyroidism, leukaemia, heart defects and later Alzheimer's disease. They tend to have older mothers, like Alzheimer's disease patients. The latter tend to have sibs with either Down's Syndrome or lymphoma/leukaemia. Evidence, looking at 28 Down's Syndrome patients, suggests that multiple food allergies, gluten-gliadin sensitivity or intolerance are causing a coeliac disease-like picture with a malabsorption state for essential vitamins, minerals and severe autoimmune disease. It is hoped that missed gluten-gliadin sensitivity or intolerance with or without coeliac disease will be considered as a cause of abnormal oogenesis and spermatogenesis resulting in trisomy 21 and other aneuploidies. The mechanism most likely is low B1 interfering with sufficient release of cAMP for normal meiosis. Alternatively exorphins and peptides from foods may suppress prostaglandin E1 synthesis, or food sensitivities may alter toxic metal absorption mechanisms, which are thought to play a role in the development of Alzheimer's disease. Adequate vitamin/mineral supplementation, especially B1, prior to conception and in the first trimester is recommended for mothers at risk for DS, especially older mothers and a gluten free diet for those with coeliac disease or gluten-gliadin sensitivity/intolerance. Hopefully this will prevent conception of a DS child, or prevent heart defects/stigmata if one is conceived. DS children should be investigated for the above and commence a food allergy free diet with relevant supplements to meet their needs as early as maximum development.
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PMID:Down's syndrome: nutritional intervention. 624 80


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