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 somatosensory evoked potentials from the lower extremities were measured postoperatively in 15 patients with biliary atresia to investigate whether they were free of neurologic dysfunction. Because long-standing cholestasis causes progressive neuropathy due to malabsorption of vitamin E, the serum vitamin E, D, and A levels were also examined to evaluate the fat-soluble vitamin status. The cerebral evoked potentials to posterior tibial nerve stimulation were recorded in all 15 patients as well as in 45 controls, but spinal evoked potentials examined at the level of the cauda equina could not be recorded in five patients more than 8 years of age with long-standing icterus. The remaining 10 patients exhibited spinal evoked potentials as observed in the controls, but the mean neural conduction velocity at the cauda equina was significantly lower than that of the 45 controls (42.0 +/- 5.1 m/s vs 52.3 +/- 6.8 m/s, P = .0002). The serum vitamin E, D, and A levels were within the normal range in 13, 9, and 1 of 15 patients, respectively. These results suggest that the patients with long-term follow-up are still at risk of developing neural disturbances even with normal serum vitamin E status.
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PMID:Evoked potential abnormalities in postoperative patients with biliary atresia. 916 10

The disease is characterised by cobalamin (Cbl) deficiency in children 0-5 years old, causing failure to thrive, infections, megaloblastic anaemia, neuropathy, and mild general malabsorption; slight proteinuria is common. Cbl injections produce remission, but Cbl malabsorption and proteinuria persist. About 250 cases have been reported. Dogs also have it. The heredity is autosomal and recessive. The physiological and pathological absorption mechanisms are described: Cbl liberated from food by digestion is first bound to haptocorrin, but in the intestine it is transferred to intrinsic factor. In the ileum the complex attaches to a receptor on the enterocytes; this requires neutral pH and Ca2+. The receptor is a membrane-bound glycoprotein consisting of multiple subunits. The receptor-ligand complex is endocytosed and degraded in lysosomes, and the vitamin is transferred to transcobalamin which carries it to tissues. The same receptor is strongly expressed in the kidneys, but urine also contains its activity which can be assayed for diagnosis. The basic lesion is an error in the ileal receptor. In the affected dogs the synthesised receptor is retained intracellularly. Urine and ileal biopsies from human cases contained little receptor but it had conserved affinity for the ligand. Recently examined Arab patients did not excrete reduced amounts of the receptor. Apparently, the disease has subsets, such as different structural errors in the receptor and possibly faulty transport inside the enterocyte. The cause of the proteinuria is unknown but kidney damage due to severe Cbl deficiency and an error in a multiligand renal receptor are among the possibilities.
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PMID:Selective cobalamin malabsorption and the cobalamin-intrinsic factor receptor. 958 52

A 24-year-old male, who suffered since childhood from a progressive form of ataxia associated with peripheral neuropathy, was found severely deficient in serum vitamin E. He walked with bilateral aid and presented severe dysmetria of the limbs and dysarthric speech; muscular strength and trophism were slightly diminished in the distal muscles of four limbs and there was hypotonia of the arms; he presented absent deep tendon reflexes, bilateral Babinski's sign, reduced proprioception at four limbs, pes cavus and fasciculations of the tongue. Intestinal fat malabsorption and other gastrointestinal or haematological conditions associated with deficiency of this vitamin were ruled out. In this patient, after 2 years of a daily supplement of high doses of vitamin E, a further progression of the disease was not observed and, moreover, the neurophysiological characteristics of his neuropathy appeared clearly improved. A longitudinal evaluation of serum vitamin E levels showed values in the normal range after 13 months of therapy. The patient had molecular genetic analysis of chromosome 8 and was found homozygous for the unusual mutation 513insTT in the alpha-tocopherol transfer protein gene.
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PMID:Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. 958 54

Clinical features and pathological findings of sural nerve biopsy are reported of a 3-year-old child affected with coeliac disease who developed a progressive polyneuropathy, unresponsive to a gluten-free diet, nor to vitamin E and folic acid supply. There was no evidence of malabsorption, nor of blood factor deficiency, nor of metabolic abnormalities which might account for the neuropathy. A sural nerve biopsy showed marked loss of myelinated fibres without evidence of regenerative phenomena. Distal involvement and features of nerve pathology are consistent with a "dying-back" mechanism to underlie the nerve damage. The lack of response to a gluten-free diet suggests that direct toxicity of gliadin is not implicated.
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PMID:Coeliac disease associated with peripheral neuropathy in a child: a case report. 970 27

The authors present their experience at the Centre for the surgical treatment of morbid obesity at Milano University where since 1974, 603 obese patients underwent surgery: 312 jejuno-ileal bypass (JIB), 70 bilio-intestinal bypass (BIB), 102 horizontal gastroplasties (HGP), 44 silastic ring vertical gastroplasties (SRVGP) and 75 adjustable silastic gastric banding (ASGB). Average follow-up for these procedures is 16, 6, 11, 4 years and 24 months respectively. Weight loss is satisfactory in all cases even though the percentages vary in the different procedures. The most serious complications (severe hepatic failure, oxalic interstitial nephritis, persisting malabsorption) occurred in patients submitted to JIB. The best clinical outcome with the lowest complications rate was obtained with BIB compared to other intestinal bypasses. The most frequent complication observed in patients submitted to gastroplasties was incoercible vomiting while the most severe complications were diffuse peritonitis, secondary to gastric perforation, and peripheric neuropathy. Our experience confirms that surgical treatment of morbid obesity refractory to medical therapy is today a safe and effective treatment. BIB has still a role in super-obese young patients (BMI over 50) refusing dietary restriction lifetime. The gastric procedures, especially laparoscopic ASGB, seem to be the best option. The excellent outcome of bariatric surgery can be obtained only in specialized centers where various specialists work together.
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PMID:[Surgery of morbid obesity: intestinal bypass to adjustable gastric banding]. 975 28

Night blindness and optic neuropathy were the presenting symptoms of an iatrogenic malabsorption syndrome in a 64-year old female. This case illustrates the necessity of lifelong vitamin supplementation after biliopancreatic bypass for morbid obesity.
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PMID:Unusual combination of night blindness and optic neuropathy after biliopancreatic bypass. 1035 65

In Crohn's disease, some concomitant neurological illnesses such as cerebral ischemia following arterial or venous thrombosis, subacute combined degeneration of the spinal cord following malabsorption of vitamin B12 or folic acid, opticus neuropathy, and polyneuropathy have been described. Cerebral vasculitis secondary to Crohn's disease seems to be a very rare phenomenon. We report on three such cases in three female patients (aged 26, 29, and 61 years). All patients became symptomatic with a hemiparesis; one complained additionally of a speech disorder, headache, and intermittent loss of orientation. In CT and MRI scans, multiple lesions were detected; cerebral angiography showed multiple stenoses of middle- and large-sized vessels that were compatible with cerebral vasculitis. Serologic tests concerning vasculitis were inconspicuous at that time. Under anticoagulation (in two cases) and immunosuppressive therapy, neurologic symptoms disappeared. In the following 6 to 12 months, no new neurological symptoms appeared. In two cases, Doppler sonographic controls showed stationary and, in one case, progressive intracranial stenoses. Since autoimmunologically caused inflammatory bowel diseases might be associated with vasculitis of other organs, the appearance of cerebral vasculitis secondary to Crohn's disease is a possible organ manifestation by inflamed vessels.
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PMID:[Cerebral vasculitis as a concomitant neurological illness in Crohn's disease]. 1079 98

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

Folic acid (folate) levels were measured in the serum of patients with various neurological diseases in Japan. Thirty-six patients showed decreased serum folate levels among 343 consecutive neurological patients (10.5%). Folate administration (15 mg/d) to folate-deficient patients improved neurological symptoms in 24 of 36 cases (67%). Serum folate levels were significantly lower in female than in male folate-deficient patients. Folate-deficient patients showed predominantly axonal neuropathy, which responded to folate supplementation more markedly. Male patients more frequently exhibited neuropathy, especially demyelinating and motor-dominant neuropathy, than females. Anemia was correlated with male sex and low serum folate levels. Male patients were more responsive than females to folate treatment. More male patients had taken excess alcohol or received gastrectomies than females. Neurological symptoms were more frequently improved by folate supplementation in patients with neuropathy than exclusive encephalopathy. Serum folate levels were lower in patients with encephalopathy, especially those with dementia, while folate therapy was more effective in neurological patients without dementia. Dysgeusia and anemia improved in all patients after folate administration. Neurological patients with malabsorption or treated with continuous drip infusion were resistant to folate therapy. Since folate-responsive neuroencepahlopathies are not rare among patients with neurological diseases in Japan, the serum folate level would serve as a valuable indicator for folate supplement therapy.
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PMID:Folic acid-responsive neurological diseases in Japan. 1157 72

Pernicious anaemia is an autoimmune atrophic gastritis inducing vitamin B12 deficiency by malabsorption. This disease may be diagnosed in the absence of any anaemia, on a neuropathy or when one or several autoimmune disorders co-exist. Typically, pernicious anaemia is revealed by macrocytic megaloblastic anaemia. Diagnosis is done on low serum vitamin B12, raised serum homocysteine, parietal cell and, intrinsic factor antibodies. Pernicious anaemia should be treated indefinitely by monthly intramuscular hydroxocobalamin. Because of an increased incidence of gastric carcinoma, endoscopy should be evenly performed.
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PMID:[Biermer's disease]. 1175 69


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