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)

The essential effects of Tocopherol are based on its antioxidative capacity. Tocopherol, however, is just one in a group of antioxidants, which are important for the organism. Established indication for therapeutical application of vitamin E in infancy is only vitamin-E-malabsorption in connection with chronic cholestasis, pancreatic insufficiency (cystic fibrosis) and short bowel syndrome. In emergency therapy vitamin E is suggested with high dosage in case of shock lung and haemolytic-uraemic syndrome. Positive effects of daily vitamin E application in connection with prophylaxis of retinopathy prematurity, bronchopulmonary dysplasia and intraventricular encephalorrhagia of premature infants of severe underweight are not established. Very questionable therapeutic or prophylactic efficiency is opposed to the risk of higher incidence of severe complications in caring for premature infants of severe underweight, such as enterocolitis necroticans and neonatal septicaemia.
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PMID:[The use of vitamin E in childhood]. 209 6

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

Diabetes mellitus caused by pancreatic exocrine disease is a unique clinical and metabolic form of diabetes. The diagnosis of pancreatic diabetes caused by chronic pancreatitis may be elusive because it is occasionally painless and often not accompanied by clinical malabsorption until after hyperglycemia occurs. Diabetic patients with pancreatic calcification or clinically demonstrable pancreatic exocrine dysfunction will manifest the unique aspects of pancreatic diabetes described herein. Like other forms of diabetes, the primary hormonal abnormality in pancreatic diabetes is decreased insulin secretion. Patients with this disorder are unique in that they have low glucagon levels that respond abnormally to several physiological stimuli, blunted epinephrine responses to insulin-induced hypoglycemia, and malabsorption. In addition, they often have concomitant alcohol abuse with hepatic disease and poor nutrition. These characteristics result in increased levels of circulating gluconeogenic amino acids, decreased insulin requirements, a resistance to ketosis, low cholesterol levels, an increased risk of hypoglycemia while on insulin therapy, and the clinical impression of brittle diabetes. Retinopathy occurs at a rate equal to that of insulin-dependent diabetes but may be less severe in degree. Other complications of pancreatic diabetes have been less well studied but may be expected to be seen more frequently as these patients survive longer. The characteristics of pancreatic diabetes suggest that a conservative approach be taken in regard to intensive insulin therapy and tight blood glucose control.
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PMID:Pancreatic diabetes mellitus. 269 11

We describe nine patients with fat malabsorption in whom a spectrum of vitamin E deficiency was present. Early deficiency was generally asymptomatic, and intermediate deficiency produced some impairment. Ataxia, weakness, reflex changes, impaired vision, and pigment retinopathy were associated with chronic, advanced deficiency. In the last group, delayed central somatosensory conduction and amplitude reduction of the electroretinogram were present. In adults, a severe vitamin E deficiency state existed for more than 5 years before producing measurable neurologic damage. The clinical picture is less homogeneous than previously suggested, and electrophysiologic abnormalities need not predate clinical dysfunction.
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PMID:The spectrum of neurologic disorder from vitamin E deficiency. 371 53

A 72-year-old man had severe malabsorption, progressive retinopathy, and spinocerebellar degeneration 32 years after gastric surgery, blind loop formation, and intestinal bacterial overgrowth. Clinical and pathologic features were typical of vitamin E deficiency; vitamin E was nearly undetectable in serum and profoundly low in adipose tissue. Vitamin E blood levels initially improved on treatment with antibiotics; after additional vitamin E supplementation, there was clinical improvement.
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PMID:Blind loop syndrome, vitamin E malabsorption, and spinocerebellar degeneration. 397 92

Ocular signs and symptoms provide clinical clues to many of the more common metabolic and nutritional disorders seen in older adults. Diabetes mellitus can affect all parts of the eye and orbit. Complications include refractive visual loss, macular edema, retinopathy, increased risk of fungal infection, and diplopia. In patients with gout, urate crystals may precipitate in the eye and cause conjunctivitis, uveitis, or scleritis. Other problems are seen with Wilson's disease, hyperlipidemia, and albinism. Nutritional disorders usually arise from malabsorption, gastrointestinal surgery, and alcohol abuse. Deficiencies in vitamins A, B1 (thiamine), B12, and C may be manifest in the eye.
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PMID:Clues in the eye: ocular signs of metabolic and nutritional disorders. 760 60

The effects of endocrine disease on bone mass continue to attract attention. Investigations include the effects on the skeleton of thyroid disease, primary hyperparathyroidism, and their treatment. The effect of growth hormone replacement in adults with panhypopituitarism has also been investigated; children with treated growth hormone deficiency appear to reach adulthood with low bone mass. The indications for surgery in asymptomatic primary hyperparathyroidism have recently been reviewed. The associations between autoimmune thyroid disease and connective tissue disease have been investigated. Although patients with Graves' disease are frequently positive for antinuclear antibodies, there appears to be no increased risk of systemic autoimmune disease. The possible pathogenesis of diabetic bone disease via calcium malabsorption, hypercalciuria, reduced bone formation, and collagen abnormalities has been reviewed. A long-term study has clarified the links among diabetic control, limited joint mobility, nephropathy, and retinopathy. The possible mechanisms by which pregnancy may induce remission in rheumatoid arthritis have been discussed.
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PMID:Endocrine disease. 843 94

Chronic vitamin E deficiency causes various neurological symptoms such as cerebellar ataxia, hypoesthesia, areflexia, pigmentary retinopathy, nystagmus and muscle weakness. This is commonly caused by malabsorption of vitamin E, which is either a result of malabsorption of fat or occurs as an isolated vitamin E deficiency. The oral vitamin E tolerance test is suitable for the assessment of vitamin E reabsorption and elimination. However, standardised normal parameters have not yet been defined. We investigated 61 healthy individuals aged 18-70 years (mean age, 45.0 years). Each person involved in the trial received 100 IU of all-rac-alpha-tocopherol in 200 millilitres of whole milk. The vitamin E in the serum was then analysed 0, 3, 6, 9, 12, 24, 36, 48, 60, 72 hours after vitamin E was given, using high pressure liquid chromatography. The ratio of vitamin E to the sum of cholesterol and triglycerides was calculated. The 90% CI for the ratio of serum vitamin E to the sum of cholesterol plus triglycerides at the indicated time points was: t = 0 h: 2.0-6.3 micrograms/mg, t = 6 h: 4.2-15.3 micrograms/mg, t = 12 h: 3.0-13.0 micrograms/mg, t = 24 h: 3.8-14.4 micrograms/mg, t = 36 h: 2.9-10.5 micrograms/mg, t = 72 h: 2.1-8.7 micrograms/mg. The serum concentration of vitamin E correlated predominantly with the sum of cholesterol and triglycerides (r = 0.73). The ratio of these parameters is therefore most suitable for diagnosing vitamin E deficiency without relying on false normal serum vitamin E concentrations as a result of abnormally high serum lipid concentrations.
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PMID:[The oral vitamin E tolerance test--an attempt at standardization]. 1044 5

Microsomal triglyceride transfer protein (MTP) is a dimeric protein complex consisting of protein disulfide isomerase and a unique 97 kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between vesicles. It was recently demonstrated that abetalipoproteinemia, a disease characterized as an inability to produce chylomicrons and very low density lipoproteins in the intestine and liver, respectively, is the result of a genetic absence of MTP. Downstream effects resulting from this defect, include very low plasma cholesterol and triglyceride levels, absence of plasma apolipoprotein B and a lipid malabsorption syndrome, leading to lipo-soluble vitamin deficiencies. A low fat diet is instituted to eliminate the diarrhea. In addition, a therapy with vitamins A and E is essential to prevent patients from developing secondary effects such as neuropathy, muscle weakness, and retinopathy.
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PMID:[Microsomal triglyceride transfer protein and abetalipoproteinemia]. 1089 63

Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol and triglyceride levels and fat-soluble vitamins deficiencies. We report two novel mutations (c.59del17 and c.582C>A) and the long-term follow-up of four ABL subjects treated with vitamin E. The good outcome of the early-treated patients contrasts with severe ataxia and retinopathy observed in the patient with delayed treatment. In conclusion, early diagnosis and early management are essential to prevent the manifestations following the fat-soluble vitamin deficiencies.
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PMID:Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. 1906 57


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