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)

Ten patients with vitamin D resistant hypophosphataemic osteomalacia are described. They had hypophosphataemia with a decreased tubular reabsorption of phosphate, malabsorption of calcium and phosphorus, proximal myopathy and extensive osteomalacic changes on iliac crest bone biopsy. The plasma alkaline phosphatase and urine hydroxyproline, however, were raised in only some of the patients. Treatment with 1alpha-hydroxyvitamin D3 in high doses rapidly cured the myopathy, increased calcium and phosphorus absorption and retention and healed the osteomalacia. Phosphorus supplements were not required.
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PMID:Vitamin D resistant hypophosphataemic osteomalacia: treatment with 1alpha-hydroxyvitamin D3. 20 18

Two IgA-deficient children with inflammatory myopathy and intestinal malabsorption were evaluated. The myopathy was characterized by weakness of facial and proximal limb muscles, increased serum concentrations of lactic dehydrogenase and creatine phosphokinase, and histologic evidence of inflammation and degeneration of muscle fibers. Features of the intestinal abnormality were blunted villi, interstitial inflammation, and reduction in IgA-containing plasma cells and IgA content of epithelial cells. The myopathy and malabsorption improved with corticosteroid treatment. Circulating antibodies to striated muscle could not be demonstrated in either patient, but one had antibodies to milk and chicken serum proteins. We speculate that IgA deficiency may predispose to the development of inflammatory myopathy.
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PMID:Inflammatory myopathy, IgA deficiency, and intestinal malabsorption. 94 14

Osteomalacia is characterized by large osteoid seams and a preserved volume of bone trabeculae. The mineralization of newly formed bone requires adequate concentrations of calcium and phosphate: the Ca.P product has been regarded as a useful, empirical diagnostic test of osteomalacia. It decreases in patients with osteomalacia mainly because they have very low plasma phosphate levels. At present total body bone mineral and total body bone density can be directly measured by whole body absorptiometry, which indicates the lowest total mineral content of the skeleton which can increase quickly after adequate treatment. The main symptoms of osteomalacia are: bone pain; muscular weakness (commonly as pelvic girdle myopathy); Looser-Milkman pseudofractures or more often a pattern of generalized demineralization at X-ray. The main biochemical parameters in osteomalacia include: defective calcium absorption with hypocalcemia and hypocalciuria; defective intestinal phosphate absorption with hypophosphatemia; there is often increased renal phosphate clearance due to hypocalcemia and secondary hyperparathyroidism; elevated alkaline phosphatase and osteocalcin levels; high bone turnover confirmed by kinetic studies carried out with radiocalcium or 99mTc-MDP. An etiological classification of the osteomalacias includes: 1) nutritional osteomalacia: a) inadequate exposure to sunlight and/or insufficient vitamin D intake; b) defective intestinal absorption of vitamin D because of malabsorption syndromes (e.g. jejuno-ileal bypass for obesity).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The osteomalacias. 166 41

We evaluated 5 patients with the diagnosis of HIV wasting syndrome. None had severe diarrhea or other causes for malabsorption. All had myopathy by clinical, laboratory, and muscle biopsy criteria. Withdrawal of azidothymidine in 3 patients did not lead to improvement. Corticosteroid therapy was effective in 3 patients.
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PMID:Human immunodeficiency virus wasting syndrome may represent a treatable myopathy. 231 98

Acanthocytes have a distinct morphology and are not normally found in peripheral blood. They occur in association with at least three neurological syndromes. In abetalipoproteinaemia, a progressive spinocerebellar ataxia and retinopathy occurs secondary to malabsorption of vitamin E. Cases with chorea are often familial, with orofacial dyskinesia and an axonal neuropathy causing areflexia and muscle wasting. Areflexia and a subclinical myopathy also occur in the McLeod syndrome, in which there is abnormal expression of Kell blood group antigens. The exact mechanism of acanthocytosis in each disorder remains uncertain: passive changes in membrane lipids, surface receptor/ligand interactions, and a primary membrane defect are among the possibilities.
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PMID:Acanthocytosis and neurological impairment--a review. 268 30

A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.
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PMID:Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. 282 22

A progressive neurological syndrome with cerebellar signs, abnormal proprioception, areflexia and Babinski response was observed in a child with chronic intestinal malabsorption. There was no ophtalmoplegia or retinitis pigmentosa. Electromyography and biopsy showed no axonopathy or myopathy. Two other members of the family were also affected. The serum Vitamin E corrected the serum Vitamin E levels within a few months and led to secondary neurological improvement. The authors underline the importance of searching for Vitamin E deficiency and its cause in patients, especially children, with signs of spino cerebellar degeneration. Substitative therapy may have a favorable influence on the neurological condition even when administered late.
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PMID:[Neurological manifestations in relation to vitamin E deficiency, caused by a defect of biliary acid synthesis]. 320 25

Proximal muscular weakness is a feature of many metabolic bone diseases but is not well recognized in spinal osteoporosis. Thirty-six post-menopausal women presenting with back pain, with or without osteoporosis, were therefore studied in order to define the relationship between abnormal electromyographic findings and disturbed vitamin D metabolism, as both low plasma 1,25 dihydroxy vitamin D concentrations and malabsorption of calcium have been reported in osteoporosis. Patients with abnormal electromyograms had lower concentrations of plasma 1,25 dihydroxy vitamin D (mean 78.3 pmol/l, SD 20.5, n = 15) than normal subjects of similar age (mean 110.4 pmol/l, SD 39.4, n = 21; P less than 0.01), but electromyographic abnormality was not associated with changes in radiocalcium absorption, plasma 25 hydroxy vitamin D, plasma calcium or phosphate or urinary calcium or hydroxy-proline excretion or impaired renal function. There was no relationship between abnormal electromyography and osteoporosis assessed by spinal radiographs and iliac crest biopsy. These findings are consistent with our previous suggestion that muscle weakness in many unrelated bone disorders is related to low plasma 1,25 dihydroxy vitamin D concentrations, but suggest that there is no relationship between proximal myopathy and spinal osteoporosis in post-menopausal women.
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PMID:Vitamin D metabolites in post-menopausal women and their relationship to the myopathic electromyogram. 622 23

The ultrastructural finding of abnormal muscle mitochondria has been reported in various conditions, but mostly in association with the clinical picture of ophthalmoplegia, and in cases of "floppy infant" syndrome. In the case herein reported, the mitochondrial abnormalities were found in the muscle biopsy of a 49-year-old man suffering from a late onset proximal myopathy; he was affected also by polyneuropathy, subclinical thyroid dysfunction, disturbances of heart conduction, and unilateral gynaecomastia. The association of abnormal muscle mitochondria and late onset myopathy without involvement of the extraocular muscles has been reported in a very few cases. It is not possible, at present, to state that these cases represent a nosological entity; the existence of an underlying biochemical defect, accounting for the mitochondrial abnormalities, could be suspected, but it seems more probable that these changes are non-specific features of muscular damage, possibly related to the stage and the degree of the process. In this view, the coexistence of neurogenic damage, gastrointestinal malabsorption, and thyroid dysfunction, could play an additional role in the case herein described. Finally, the coexisting findings of cardiac, endocrine, and neuropathic damage are discussed with regard to the Kearns-Sayre syndrome, which also associates mitochondrial myopathy and multisystemic involvement.
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PMID:[Late myopathy with mitochondrial changes in the muscle]. 645 35

Hematological abnormalities in scleroderma indicate a specific complication of the disease itself, or an associated illness. Among 180 patients with scleroderma, anemia was detected in 25% and was attributed to chronic inflammatory disease (usually an overlap syndrome), bleeding mucosal telangiectases as part of the CREST syndrome, intestinal malabsorption, and microangiopathic hemolysis. Leukocytosis, present in 14%, was correlated with active myopathy and/or advanced visceral involvement while leukopenia was suggestive of a crossover with systemic lupus erythematosus. Thrombocytopenia was often a manifestation of microangiopathy, and thrombocytosis was associated with an arteritis or a tumor syndrome.
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PMID:Hematological abnormalities in scleroderma. A study of 180 cases. 677 74


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