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)

Several primarily inherited disturbances of minerals and trace elements have been discovered within the last 20 years. Secondary disturbances of selenium and zinc induced by dietetic treatment of inborn errors of metabolism and by parenteral nutrition also came to our knowledge recently. Two main types of chronic or primary hypomagnesaemia are known which are caused either by impaired intestinal absorption or by false magnesium handling by the kidneys. In acrodermatitis enteropathica, an autosomal-recessive inherited disease leading to characteristic skin lesions, alopecia and dystrophy, low zinc concentrations of serum, urine and hair are measured. The intestinal absorption of zinc is reduced. In copper metabolism two inherited diseases are known with low serum and usually caerulosplasmin concentrations. In Menkes' steely hair syndrome (trichlpoliodystrophy) an intestinal net malabsorption of copper exists, whereas in Wilson's disease the copper contents of several organs are increased.
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PMID:Primary and secondary disturbances in trace element metabolism connected with genetic metabolic disorders. 91 52

The essentiality of zinc for humans was recognized in the early 1960s. The causes of zinc deficiency include malnutrition, alcoholism, malabsorption, extensive burns, chronic debilitating disorders, chronic renal diseases, following uses of certain drugs such as penicillamine for Wilson's disease and diuretics in some cases, and genetic disorders such as acrodermatitis enteropathica and sickle cell disease. In pregnancy and during periods of growth the requirement of zinc is increased. The clinical manifestations in severe cases of zinc deficiency include bullous-pustular dermatitis, alopecia, diarrhea, emotional disorder, weight loss, intercurrent infections, hypogonadism in males; it is fatal if unrecognized and untreated. A moderate deficiency of zinc is characterized by growth retardation and delayed puberty in adolescents, hypogonadism in males, rough skin, poor appetite, mental lethargy, delayed wound healing, taste abnormalities, and abnormal dark adaptation. In mild cases of zinc deficiency in human subjects, we have observed oligospermia, slight weight loss, and hyperammonemia. Zinc is a growth factor. Its deficiency adversely affects growth in many animal species and humans. Inasmuch as zinc is needed for protein and DNA synthesis and for cell division, it is believed that the growth effect of zinc is related to its effect on protein synthesis. Whether or not zinc is required for the metabolism of somatomedin needs to be investigated in the future. Testicular functions are affected adversely as a result of zinc deficiency in both humans and experimental animals. This effect of zinc is at the end organ level; the hypothalamic-pituitary axis is intact in zinc-deficient subjects. Inasmuch as zinc is intimately involved in cell division, its deficiency may adversely affect testicular size and thus affect its functions. Zinc is required for the functions of several enzymes and whether or not it has an enzymatic role in steroidogenesis is not known at present. Thymopoeitin, a hormone needed for T-cell maturation, has also been shown to be zinc dependent. Zinc deficiency affects T-cell functions and chemotaxis adversely. Disorders of cell-mediated immune functions are commonly observed in patients with zinc deficiency. Zinc is beneficial for wound healing in zinc-deficient subjects. In certain zinc-deficient subjects, abnormal taste and abnormal dark adaptation have been noted to reverse with zinc supplementation.
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PMID:Clinical manifestations of zinc deficiency. 389 71

The essentiality of zinc for humans was recognized in the early 1960s. The causes of zinc deficiency include malnutrition, alcoholism, malabsorption, extensive burns, chronic debilitating disorders, chronic renal disease, certain diuretics, the use of chelating agents such as penicillamine for Wilson's disease, and genetic disorders such as acrodermatitis enteropathica and sickle cell disease. The requirement of zinc is increased in pregnancy and during the growing age period. The clinical manifestations in severe cases of zinc deficiency included bullous-pustular dermatitis, alopecia, diarrhoea, emotional disorder, weight loss, intercurrent infections, hypogonadism in males and it is fatal if untreated. A moderate deficiency of zinc is characterized by growth retardation and delayed puberty in adolescents, hypogonadism in males, rough skin, poor appetite, mental lethargy, delayed wound healing, taste abnormalities and abnormal dark adaptation. In mild cases of zinc deficiency in human subjects, we have observed oligospermia, slight weight loss and hyperammonaemia. Zinc is a growth factor. As a result of its deficiency, growth is affected adversely in many animal species and in man. Inasmuch as zinc is needed for protein and DNA synthesis and cell division, it is believed that the growth effect of zinc is related to its effect on protein synthesis. Testicular functions are affected adversely as a result of zinc deficiency in both humans and experimental animals. This effect of zinc is at the end organ level and the hypothalamic--pituitary axis is intact in zinc-deficient subjects. Inasmuch as zinc is intimately involved in a cell division, its deficiency may adversely affect testicular size and thus its function. In mice, the incidence of degenerate oocytes, and hypohaploidy and hyperhaploidy in metaphase II oocytes were increased due to zinc deficiency. Zinc at physiological concentrations reduced prolactin secretion from the pituitary in vitro and it has been suggested that this trace element may have a role in the in vivo regulation of prolactin release. Thymopoietin, a hormone needed for T-cell maturation, has also been shown to be zinc dependent. It is clear that zinc may have several roles in biochemical and hormonal functions of various endocrine organs. Future research in this area is very much needed.
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PMID:Clinical, endocrinological and biochemical effects of zinc deficiency. 390 80

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

Idiopathic neonatal hepatitis is one of the more important causes of neonatal cholestasis. It is regarded one of the clinical presentations of 'idiopathic obstructive cholangiopathy', just like extrahepatic biliary atresia. Is it not possible to discriminate between intrahepatic and extrahepatic causes of neonatal cholestasis, or between idiopathic neonatal hepatitis and metabolic, infectious, or toxic causes, by using clinical or laboratory parameters. Liver histology is slightly more helpful: giant cell formation, focal liver necrosis, and lymphocytic and neutrophilic infiltration may be found in idiopathic neonatal hepatitis. In infectious hepatitis liver pathology mostly is only a lesser part of the symptomatology. Sporadic idiopathic neonatal hepatitis has a better prognosis than familial; about 75% of children with sporadic hepatitis experience complete recovery as compared to less than 25% of children with familial hepatitis. Therapy is confined to the prevention and treatment of complications such as itching, portal hypertension and variceal bleeding, and (fat) malabsorption.
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PMID:[Idiopathic neonatal hepatitis]. 812 25

Transport proteins such as channels and transporters play important roles in the maintenance of intracellular homeostasis. Genes for transport proteins have been cloned one after the other in recent years, and mutations in these transport protein genes have been identified in the pathogenesis of a number of hereditary diseases. These diseases include Liddle's syndrome, long QT syndrome, hyperkalemic periodic paralysis, cystic fibrosis, myotonia congenita, nephrogenic diabetes inspidus, glucose/galactose malabsorption, cystinuria, and Wilson's disease. Gene mutations in several receptors, including vasopressin V2 receptor, dihydropyridine receptor, and Ca2+ -sensing receptor, also cause disorders of membrane transport, leading to diseases. Further advances in basic science are expected to provide us with a detailed understanding of the abnormality in the 3rd/4th structure of mutated transport proteins.
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PMID:[Diseases caused by disorders of membrane transport: an overview]. 890 8

Copper is one of the essential trace elements. It is part of a number of enzymes. Deficiency of the element is manifested by impaired haematopoesis, bone metabolism, disorders of the digestive, cardiovascular and nervous system. Deficiency occurs in particular in patients suffering from malnutrition, malabsorption, great copper losses during administration of penicillamine. Sporadically copper intoxications are described (suicidal intentions or accidental ingestion of beverages with a high copper content). Acute exposure to copper containing dust is manifested by metal fume fever. Copper salts can produce local inflammations. Wilson's disease is associated with inborn impaired copper metabolism. In dialyzed patients possible contaminations of the dialyzate with copper must be foreseen as well as the possible release of copper from some dialyzation membranes. With the increasing amount of copper in the environment it is essential to monitor the contamination of the environment.
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PMID:[Copper and the human body]. 947 82

Wilson's disease is a rare genetic disease involving the malabsorption of copper by the body. The most common characteristic sign is the presence of Kayser-Fleischner ring surrounding the cornea. Other systemic and motor signs have been documented as well as MRI changes within the brain and brainstem. This rare case illustrates the potential importance of audiometric assessment for patients with Wilson's disease who complain of hearing loss, tinnitus and intra-aural pressure. Unilateral findings were significant for retrocochlear neural transmission delays.
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PMID:Rare auditory-electophysiology finding in Wilson's disease. 1578 78

The aim of the study is to evaluate the serum copper, ceruloplasmin and 24-h urine copper levels in celiac patients. Serum copper, ceruloplasmin and 24-h urine measurements were evaluated in patients with celiac (n = 32), Crohn's (n = 25), Wilson's (n = 11) and in a healthy group (n = 35). Serum and 24-h urine zinc levels, AST, ALT, BUN, creatinine, iron, hemoglobin, hematocrit, lymphocyte, sedimentation and CRP levels were also measured. Results were evaluated statistically and significance was accepted as meaningful if P < 0.05. In celiacs, levels of urine copper were high (52 +/- 29 microg/day, P < 0.000) but serum copper was the same as in controls (105 +/- 16 microg/dl, P < 0.158). High urinary copper of celiacs were coming out in women (56 +/- 30 microg/day) and in man (33 +/- 17 microg/day, P < 0.115). Most celiacs were female (P < 0.001). Serum copper and ceruloplasmin levels in all groups were higher in women than in men and this was meaningful for serum copper in the control group (P < 0.045) and for ceruloplasmin in Crohn's (P < 0.055) and control groups (P < 0.031). Serum (70 +/- 14 microg/dl, P < 0.000) and urine zinc levels (25 +/- 15 microg/dl, P < 0.039) of celiacs were low. Ceruloplasmin levels were higher in celiacs (337 +/- 64 U/1) and Crohn's patients (366 +/- 47 U/l, P < 0.000). Correlations observed in the groups of celiac (P < 0.029) and Crohn's (P < 0.024), celiac and Wilson's (P < 0.001) and Crohn's and Wilson's (P < 0.001) between the ceruloplasmin and 24-h urine copper parameters. AST and ALT levels were higher in celiac and Wilson's patients than in Crohn's patients and controls. Mean CRP levels were significantly higher in Crohn's than others. Lymphocyte counts were meaningfully higher in celiacs. Statistically, while mean iron, hemoglobulin and hematocrit levels of celiac and Crohn groups were meaningfully lower than the normal and Wilson's group, it was similar in Wilson's and the control group. Serum copper (85 +/- 26 microg/dl, P < 0.158) and ceruloplasmin (219 +/- 83 U/l, P < 0.001) levels were low and 24-h urine copper levels were high (415 +/- 346 microg/day) in Wilson's group. Increased urinary loss may be another cause of copper deficiency in female celiacs besides malabsorption and this topic needs more investigation. Increased urinary copper levels in celiac women should not always be regarded as a diagnosis of Wilson's disease.
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PMID:Serum copper, ceruloplasmin and 24-h urine copper evaluations in celiac patients. 1793 56

Wilson's disease is an infrequent, autosomic recessive pathology, resulting from a loss of function of an adenosine triphosphatase (ATP7B or WDNP), secondarily to a change (more than 60 are described currently), insertion or deletion of the ATP7B gene located on the chromosome 13q14.3-q21.1, which involves a reduction or an absence of the transport of copper in the bile and its accumulation in the body, notably the brain. Wilson's disease is transmitted by an autosomic recessive gene located on the long arm of chromosome 13. The prevalence of the heterozygote is evaluated at 1/90 and the homozygote at 1/30,000. Consanguinity, frequent in the socially geographically isolated populations, increases the prevalence of the disease. The toxic quantities of copper, which accumulate in the liver since early childhood and perhaps before, remain concentrated in the body for years. Hence, cytological and histological modifications can be detected in the biopsies, before the appearance of clinical or biological symptoms of hepatic damage. The accumulation of copper in the liver is due to a defect in the biliary excretion of metal and is accompanied invariably by a deficit in ceruloplasmin; protein synthesized from a transferred ATP7B gene, which causes retention of the copper ions in the liver. The detectable cellular anomalies are of two types: hepatic lesions resulting in acute hepatic insufficiency, acute hepatitis and finally advanced cirrhosis and lesions of the central nervous system responsible for the neurological and psychiatric disorders. In approximately 40-50% of the patients, the first manifestation of Wilson's disease affects the central nervous system. Although copper diffuses in the liver towards the blood and then towards other tissues, it has disastrous consequences only in the brain. It can therefore cause either a progressive neurological disease, or psychiatric disorders. Wilson's disease begins in the form of a hepatic, neurological, or psychiatric disease in at least 90% of the patients. In some rare cases, the first manifestations of the disease can be psychiatric which, according to the literature, accounts for only 10% of the cases. The disease can be revealed by isolated behavioral problems, an irrational syndrome, a schizophrenic syndrome, or a manic-depressive syndrome. Damage to the central nervous system can be more severe, thus, several differential diagnoses have been discussed: a psychotic disorder of late appearance; a depressive state; a mental confusion disorder. The clinical syndrome is complex. Indeed, it is the polymorphism, which dominates in the description of the psychiatric demonstrations of the disease. This can lead to prejudicial diagnostic wandering, particularly since heavy sedative treatment may be required to suppress behavioral problems. Clinically, Wilson's disease generally appears between the age of 10 and 20. It rarely remains masked until after the age of 40. The first manifestations are hepatic (40% of the cases), neurological (35%) or psychiatric (10%). The inaugural disorder can finally take on a haematological, renal, or mixed form in approximately 15% of the cases. We have detailed the principal clinical elements. In approximately 40-50% of the patients, the first manifestation of the disease affects the central nervous system, where it can cause either a progressive neurological disease, or psychiatric disorders. The ophthalmologic disorder is dominated by Kayser-Fleischer's ring, representing a green or bronze colored ring on the periphery of the cornea. It occupies the higher pole of the cornea, then the lower pole, and extends to the whole circumference. It is generally only visible under examination with a slit lamp. It disappears on average within 3-5 years following copper chelating therapy. Kayser-Fleischer's ring has been described other than in Wilson's disease, in exceptional cases of prolonged cholestasis. On haematological level, the hyperhaemolysis is due to the toxicity of the ionic copper, released massively in the plasma by hepatocellular necrosis. The other manifestations can be found in the following organs: renal, osteoarticular, cardiac, endocrine, cutaneous, and in the teguments. Until 1952, the diagnosis was evoked only on clinical symptomatology. It can henceforth be marked unambiguous, even in the absence of any symptom, by the description of a ceruloplasmin plasma concentration of less than 200 ml/l, and of a Kayser-Fleischer's ring. Hepatic copper on sample is constantly increased during the disease (from 3 to 25 micromol/g of dry weight). On the other hand, the absence of a reduction in the plasma ceruloplasmin does not make it possible to exclude the diagnosis. Conversely, a reduction in ceruloplasmin can exist other than in Wilson's disease (nephritic syndrome, malabsorption syndrome, or severe hepatic insufficiency). Kayser-Fleischer's ring is quasiconstant among patients with neuropsychiatric demonstrations (thus, its absence represents a very strong argument against the diagnosis). It can on the other hand be lacking during hepatic forms, and in this case, its absence is not an argument against the diagnosis. Magnetic resonance imaging can reveal abnormal signals of the grey cores. A genetic study is conducted by liaison analysis in the event of a family history of the disease. When it is not treated, Wilson's disease induces lesions of the tissues, the outcome of which is always fatal. Treatment relies on the regulation of copper chelation, which improves the prognosis, and zinc, which captures the copper in a nontoxic form. The severe psychiatric disorders observed during Wilson's disease may require tranquilizers, but care should be taken because of potential neurological or hepatic side effects. Lithium seems an interesting treatment and remains theoretically indicated, taking into account the scarcity of the extrapyramidal symptoms and the hepatic dysfunction among patients at the stage of cirrhosis, since it is not metabolized in the liver. Although rare, it is important to approach Wilson's disease in psychiatry because the psychiatric manifestations can precede the somatic disorders and help to pose the diagnosis. We stress the importance of the early diagnosis of the pathology, the outcome of which is fatal in the absence of specific treatment.
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PMID:[The onset of psychiatric disorders and Wilson's disease]. 1878 84


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