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 substantial effort has been made over the past decade to characterize the metabolism of the fat-soluble vitamins in chronic cholestasis to both improve the clinical care of affected patients and to understand the pathophysiology of the vitamin deficiency states. Cholestatic liver disease is a unique cause of fat malabsorption in which standard indices to evaluate vitamin status may be inaccurate. Thus, specific approaches to define vitamin status are being developed. Using the treatment modalities outlined in this review, fat-soluble vitamin deficiency should be a manageable problem and not lead to significant morbidity in patients with chronic cholestasis. The most subtle consequences of deficiency of each vitamin remains to be discovered.
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PMID:Fat-soluble vitamins and their importance in patients with cholestatic liver diseases. 769 27

Primary biliary cirrhosis is a chronic, usually progressive, cholestatic liver disease of presumed autoimmune etiology that affects predominantly young and middle-aged women. It is nearly always associated with an antibody directed against a component of the pyruvate dehydrogenase complex located on the inner wall of the mitochondria. The disease is associated with a number of other associated autoimmune disorders. No totally effective medical treatment has been established for the disease, although urosdeoxycholic acid appears promising. Complications of cholestasis such as fat malabsorption and fat-soluble vitamin deficiency should be excluded or corrected when found. Individual patient prognosis varies. Several models for estimating individual patient survival are available. Liver transplantation is recognized as a procedure to extend and improve the quality of life for patients with advanced disease.
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PMID:Primary biliary cirrhosis. 771 16

Megaloblastic anemia in children is mainly due to folic acid or vitamin B12 deficiencies. However dosages of these two vitamins must be performed before any vitamin supplementation or blood transfusions are given in order to establish precisely the etiologic diagnosis. A disorder in the metabolism of these vitamins must be considered in any infants in whom the onset of neurological abnormalities is associated with the characteristic hematological abnormalities. Imerslund's syndrome is a specific vitamin B12 malabsorption defect that warrants consideration as it is easy to recognize on the basis of the association of megaloblastic anemia and proteinuria. A possible drug-induced etiology must also be looked for. In the absence of vitamin deficiency, several rare etiologies must be considered. A macrocytosis, occasionally with megaloblastosis reflecting an abnormal erythropoiesis, may accompany an hemopathy, eventually malignant.
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PMID:[Megaloblastic anemia in children]. 799 38

Mucocutaneous changes occur in vitamin deficiency states and may be helpful in clinical diagnosis of the underlying disease. Substitution and therapy with vitamins can also cause skin problems, which may be of allergic of nonallergic origin. The skin and mucosal changes in pellagra and scurvy can be diagnostic; however, in other vitamin deficiencies, skin signs are rather unspecific. In most cases combined vitamin deficiencies occur that result in polymorphic and nonspecific mucocutaneous signs. Vitamin deficiencies are due to malnutrition, malabsorption or genetic defects. In industrialized countries alcoholism and gastrointestinal disorders are the main cause of vitamin deficiencies. Alcoholics or patients with malabsorption syndrome suffering from seborrheic dermatitis-like or ichthyosiform-like eruptions should be investigated for vitamin deficiency. Laboratory analysis of blood and urine vitamin levels can be misleading because of the poor correlation with tissue vitamin concentrations. Rapid clinical improvement following vitamin substitution frequently confirms the clinical diagnosis. In this overview we describe mucocutaneous signs of vitamin deficiencies. Excellent reviews of this topic are recommended for further reading [1-5].
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PMID:[Vitamins and skin]. 807 86

Fat-soluble vitamin deficiency is known to result in various complications that may be prevented if the problem is recognized and managed appropriately. In infants and children with chronic cholestasis, replacement therapy of the fat-soluble vitamins, vitamins A, D, E, and K, may prove extremely difficult because low concentrations of intraluminal bile acids lead to malabsorption of these compounds and other fat-soluble substances. Recent progress in the use of a water-soluble form of vitamin E, d-alpha-tocopheryl polyethylene glycol-1000 succinate, has enabled correction of vitamin E-deficiency states in these patients. It has also allowed for the admixture and coadministration of other fat-soluble vitamins and compounds in d-alpha-tocopheryl polyethylene glycol-1000 succinate to enhance their absorption. For managing vitamin K deficiency, similar success has been achieved using a vitamin K compound solubilized in glycocholate and lecithin. Vitamin A deficiency has been implicated in the higher incidence of childhood mortality and morbidity in Third World countries. Increased risk of childhood cancer has recently been associated with intramuscular injection of vitamin K to newborns. Finally, it is worth noting that among the pediatric population, exclusively breastfed infants, in general, are at risk for hypovitaminosis D, and at even greater risk in the absence of adequate exposure to sunlight or when the maternal diet is not sufficient to provide for vitamin D requirements.
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PMID:Fat-soluble vitamin deficiency in infants and children. 828 79

1. Vitamin A: There are very few reports on vitamin A deficiency in Japan because of the rising national status of nutrition, while vitamin A deficiency is still an important nutritional problem in developing and poorly developed countries. In the pediatric field, relationship between vitamin A nutrition and the mechanism for development of bronchopulmonary dysplasia have been discussed, since vitamin A acts as a protector from the keratinization of epithelial cells in the mucosal layer and the skin. The changes in the lung tissues with inadequately supplied vitamin A, probably cause the chronic lung disease resulting from mechanical ventilation in neonates, in whom the plasma vitamin A and retinol binding protein levels are usually low. 2. Vitamin E: In keeping with the view that newborn infants and especially premature infants suffer from vitamin E deficiency. On the basis of recent findings of the vitamin E content in the neonatal cells, the previous concept would agree, as an existing marginal deficiency in neonates. The neurologic deficits manifested in a beta-lipoproteinemia is confirmed to be vitamin deficiency in humans. It has also become clear that similar neurologic impairment occurs in other chronic fat malabsorptive states, such as cholestatic liver diseases, extensive resection of the gut. More recently several patients with spinocerebellar degeneration from vitamin E deficiency without other evidence of malabsorption in whom progression of the diseases is terminated by the vitamin E therapy (isolated vitamin E deficiency) have been reported. The above items are discussed.
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PMID:[Vitamin A and E deficiency in children, including the marginal deficiency]. 848 80

Children deficient in vitamin E have various neurologic symptoms. 2 cases representing different mechanisms of this vitamin deficiency are reported. A 15-year-old boy with fat malabsorption due to cystic fibrosis who was diagnosed as being vitamin E deficient (< 0.5 mg/l), had typical neuropathies. On the other hand, a 12-year-old Beduin girl had isolated vitamin E deficiency, as well as neurological symptoms suggestive of Friedrich's ataxia. Vitamin E supplementation by intramuscular injection in the first case and per os in the second led to significant improvement in neurological symptoms.
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PMID:[Neurological symptoms associated with vitamin E deficiency]. 868 50

Severe numerical dental aberrations are rare, and are most often seen as a part of certain syndromes. We here report on a Saudi Arabian family where first-cousin marriages have caused numerical and structural dental abnormalities linked to autosomal recessively inherited liver diseases. The two latest affected children in this family have had their liver defect successfully treated with fat-soluble vitamins and chenodeoxycholic acid, enabling us to study their dental development. One boy exhibits 11 supernumerary teeth, a general hypomineralisation and enamel hypoplasia, while an affected cousin successfully diagnosed at an early age, so far, only suffers from structural enamel defects. The children are otherwise healthy. There is no resemblance to any known syndromes. We suggest that the supernumerary teeth and the liver disease are caused by the same genetic defect, and represent a new association. The hypomineralisation, however, is most likely to result from vitamin deficiency secondary to malabsorption during the first years of life, before successful treatment was instituted.
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PMID:Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association. 883 33

Folate or cobalamin deficiencies are usually detected by hematologic abnormalities, such as a macrocytic megaloblastic anemia, or often milder signs, such as hypersegmented neutrophils. In fact, these vitamin deficiencies may be associated with clinical conditions in which anemia and/or macrocytosis are absent, such as neuropsychiatric disorders and inborn errors of folate or cobalamin metabolism. A battery of sensitive tests, including blood vitamin levels, serum methylmaIonic acid and homocysteine assays, and the deoxyuridine suppression test in the bone marrow, allows for early detection of vitamin deficiency. Additional tests may be included to identify the causes of deficiency, such as the Schilling test using crystalline cyanocobalamin, or a modified Schilling test for showing food cobalamin malabsorption. Strategies for diagnosing a vitamin deficiency differ according to the hematologic and clinical presentations. The deleterious effects (aside from anemia) that arise from cobalamin or folate deficiency and include neurological complications, increased risk of vascular disease due to hyperhomocysteinemia, and increased risk of some types of cancer related to folate deficiency, underscore the importance of making an early diagnosis and instituting treatment with the appropriate vitamin in preventing permanent damage.
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PMID:Modern clinical testing strategies in cobalamin and folate deficiency. 993 May 67

A COMMON CONDITION: Vitamin B12 deficiency is common in the elderly. Search for deficiency should be undertaken whenever the clinical situation could lead to vitamin deficiency whether macrocytic anemia is present or not as its development may come late. PATHOPHYSIOLOGICAL IMPLICATIONS: The potential relationships between degenerative neuropsychiatric disorders and cerebrovascular or cardiovascular disease, mainly via hyperhomocysteinemia, emphasize the importance of searching for vitamin B12 deficiency in the elderly. SPECIFIC CAUSES: In the elderly, it is important to recognize specific causes of vitamin B12 deficiency, mainly resulting from vitamin malabsorption.
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PMID:[Vitamin B 12 deficiency in the aged]. 1056 83


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